proline and Amino Acid Metabolism Disorders, Inborn

proline has been researched along with Amino Acid Metabolism Disorders, Inborn in 170 studies

Research

Studies (170)

Timeframe	Studies, this research(%)	All Research%
pre-1990	124 (72.94)	18.7374
1990's	11 (6.47)	18.2507
2000's	17 (10.00)	29.6817
2010's	16 (9.41)	24.3611
2020's	2 (1.18)	2.80

Authors

Authors	Studies
Boltje, TJ; Coene, KLM; Engelke, UFH; Hendriks, V; Huigen, MCDG; Körver-Keularts, IMLW; Martens, J; Mecinović, J; Merx, J; Oomens, J; Rutjes, FPJT; van Outersterp, RE; Waterval, HWAH; Wevers, RA	1
Attri, SV; Bhatia, V; Kaur, R; Paria, P; Saini, AG; Suthar, R	1
de Koning, TJ	1
Becker, DF; Liu, LK; Tanner, JJ	1
Clelland, CL; Clelland, JD; Drouet, V; Duff, KE; Kaon, A; Kelly, A; Nadrich, RH; Rajparia, A; Read, LL	1
Di Rosa, G; Lenzo, P; Nicotera, AG; Spanò, M; Tortorella, G	1
Endo, F; Matsumoto, S; Mitsubuchi, H; Nakamura, K	2
Biancini, GB; da Cunha, AA; Ferreira, AG; Manfredini, V; Scherer, EB; Vanzin, CS; Vargas, CR; Wyse, AT	1
Anderson, G; Benatti, M; Brown, R; Chong, K; Clayton, PT; Footitt, E; Gissen, P; Hemingway, C; Holden, S; James, C; Little, D; Mills, PB; Ocaka, L; Parker, A; Rahman, S; Reid, ES; Williams, H	1
Bender, HU; Steel, G; Valle, D; Willis, A	1
Afenjar, A; Blanchet, P; Bonafé, L; Campion, D; Des Portes, V; Di Rosa, G; Drouin-Garraud, V; Echenne, B; Espil-Taris, C; Frebourg, T; Goldenberg, A; Guet, A; Guilmatre, A; Hoffman, JD; Ioos, C; Izzi, C; Le Galloudec, E; Legallic, S; Maurey, H; Mignot, C; Orcesi, S; Roubertie, A; Steel, G; Valayannopoulos, V; Valle, D; Van Maldergem, L; Willis, A	1
DiMario, PJ; He, F	1
Bogo, MR; Bonan, CD; Cunha, AA; da Cunha, MJ; Ferreira, AG; Netto, CA; Pereira, TC; Stefanello, FM; Wyse, AT	1
Netto, CA; Wyse, AT	1
Baraldi, AN; Bart, CP; Clelland, CL; Clelland, JD; Nadrich, RH; Panek, LJ; Pappas, CA; Read, LL	1
Kostál, V; Šimek, P; Zahradnícková, H	1
da Cunha, AA; Dalazen, GR; de Assis, AM; dos Santos, MF; Dutra-Filho, CS; Ferreira, AG; Lamers, ML; Machado, FR; Pederzolli, CD; Wyse, AT	1
Bonan, CD; Piato, AL; Savio, LE; Vuaden, FC; Wyse, AT	1
Biasibetti, H; da Cunha, MJ; de Lima, BO; Heimfarth, L; Loureiro, SO; Pessoa-Pureur, R; Scherer, EB; Wyse, AT	1
Berthelot, J; Bonneau, D; Bonnemains, C; Campion, D; Frebourg, T; Jacquet, H; Raux, G; Saugier-Veber, P; Simard, G	1
Farrant, RD; Langley, GJ; Mellor, JM; Mills, GA; Walker, V	1
Franzon, R; Lamers, ML; Stefanello, FM; Wajner, M; Wannmacher, CM; Wyse, AT	1
EFRON, ML; SCHAFER, IA; SCRIVER, CR	1
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D	1
ASATOOR, AM; KOPELMAN, H; MILNE, MD	1
ANYON, CP	1
EFRON, ML	3
GARLAND, J	1
Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D	1
Bavaresco, CS; Netto, CA; Streck, EL; Wyse, AT	1
Hara, T; Ihara, K; Inoue, Y; Kato, Y; Kuhara, T; Miyako, K	1
Hamase, K; Konno, R; Morikawa, A; Niwa, A; Takagi, S; Zaitsu, K	1
Inagaki, E; Kuroishi, C; Ohshima, N; Tahirov, TH; Takahashi, H; Yokoyama, S	1
Phang, JM	1
Hu, CA; Phang, JM; Valle, D	1
Scriver, CR	2
Efron, ML; Mechanic, GL; Shih, VE	1
Conner, WT; Whelan, DT	1
Gray, RG; Hill, SE; Pollitt, RJ	2
Brandt, NJ; Kølvraa, S; Rosleff, F	1
Butterworth, J; Priestman, D	1
Christensen, E; Gregersen, N; Kølvraa, S	1
Arata, J; Kodama, H; Mikasa, H	1
Charpentier, C; Dagbovie, K; Johnstone, RA; Larregue, M; Lemonnier, A	1
Meister, A; Wellner, D	1
Beemer, FA; Desplanque, J; Gerards, LJ; van der Heiden, C; van Dijk, HA	1
Coradello, H; Lubec, G; Nauer, G; Pollak, A; Ratzenhofer, E	1
Prusiner, SB	1
Milner, RD; Wirdnam, PK	1
Endo, F; Matsuda, I	1
Campbell, HD; Webb, GC; Young, IG	1
Endo, F	3
Endo, F; Tanoue, A	1
Ohura, T	1
Flynn, MP; Geraghty, MT; Hu, CA; Jimenez-Sanchez, G; Lin, WW; Nicholson, AJ; Obie, C; Valle, D; Vaughn, D	1
Beck, KD; Gogos, JA; Karayiorgou, M; Lucas, LR; Luine, V; Nadler, JV; Santha, M; Takacs, Z	1
Baveresco, CS; Dutra-Filho, CS; Oliveira, LS; Pontes, ZE; Streck, EL; Wajner, M; Wannmacher, CM; Wyse, AT	1
Matsumura, R	1
Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D	1
Goodman, BK; Lin, WW; Pulver, AE; Rutberg, J; Thomas, GH	1
Lopes, I; Marques, L; Martins, E; Neves, E; Pena, R; Silva, A; Taveira, M; Vilarinho, L	1
Justice, P; Kanwar, YS; Krakower, CA; Manaligod, JR; Wong, PW	1
Greco, GM; Magli, A	1
Merin, S; Statter, M; Yatziv, S	1
Lasley, L; Scriver, CR	1
Applegarth, DA; Dooley, KC	1
Gejyo, F; Hanyu, T; Igarashi, R; Ikeda, K; Isemura, M; Matsuo, S; Nakazawa, R; Sato, Y	1
Goodman, SI; Harris, SC; Phang, JM; Valle, D	1
Similä, S	4
De Bree, PK; De Vries, HR; Duran, M; Wadman, SK	1
Yamaguchi, Y	1
Umemura, S	1
Dennis, AW; Greenberg, M; Jackson, SH	1
Mollica, F; Pavone, L	1
Frimpter, GW	2
Ben-Zvi, A; Russell, A; Schein, R; Shina, A; Statter, M	1
Applegarth, DA; Goodman, SI; Phang, JM; Shih, VE; Valle, D	1
Auricchio, G; Carlomagno, S; Cedrola, G; Cianciaruso, L; Curto, A; Fusco, G; Rinaldi, E; Romano, A; Rosolia, S	1
Blake, RL; Hall, JG; Russell, ES	1
Meister, A; van der Werf, P	1
Allegranza, A; Berio, A; Cadoni, M; Camozzi, C; Cavallo, V; Di Stefano, A; Santos, JG; Scapaticci, E	1
Levy, HL; Mollica, F; Pavone, L	1
Larsson, A; Mattsson, B	1
Bellet, H; Daudet, H; Dumas, ML; Dumas, R; Magnan de Bornier, B; Morin, D; Valette, H	1
Imai, T; Ishikawa, Y; Kameda, K; Minami, R; Nagaoka, M; Okabe, M	1
Purkiss, P; Wajner, M; Wannmacher, CM	1
Fleming, GA; Flynn, MP; Martin, MC; Moore, PT; Phang, JM; Stafford, JA	1
Reavey, PC; Yadav, GC	1
Fujita, S; Itakura, Y; Nakao, T; Oyanagi, K; Shiono, H; Tamura, Y; Tsuchiyama, A	1
Davis, JL; Flood, JF; Pico, RM	1
Larsson, A; Meister, A; Sekura, R; Wellner, VP	1
Meister, A	1
Buist, NR	1
McCully, KS	1
Komrower, GM	1
Hansen, S; Hardwick, DF; Lowry, RB; Perry, TL	1
Hillman, RE; Rosenberg, LE	1
Goodman, SI; Phang, JM; Valle, DL	1
Kivirikko, KI; Pelkonen, R	1
Andersson, R; Dreborg, S; Hagenfeldt, L; Hörnell, H; Larsson, A; Zetterström, R	1
Baumann, H; Kluge, G; Lubs, H; Machill, G	1
Reske-Nielsen, E; Rosleff, F; Thomsen, B; Vetner, M	2
Adams, E; Heacock, AM	1
Ampola, MG	1
Blake, RL	1
Antener, I; Mollica, F; Pavone, L	2
Bellinger, JF; Buist, NR; Kennaway, NG; Strandholm, JJ	1
Kroll, S; Toussaint, W; Zebisch, P	2
Potter, JL; Waickman, FJ	1
Blehová, B; Hyánek, J; Jirásek, J; Păzoutová, N	1
Lapiere, CM; Nusgens, B	1
Eldjarn, L; Jellum, E; Stokke, O	1
Giesberts, MA; Laurent de Angulo, MS; Teijema, HL; van Gelderen, HH	1
Grygalewicz, J; Iwańska, J; Kowalewska-Kantecka, B; Oknińska, A	1
Blake, RL; Grillo, RV; Russell, ES	1
Fell, V; Pollitt, RJ; Sampson, GA; Wright, T	1
Applegarth, DA; Hardwick, DF; Hingston, J; Ingram, P	1
Blehová, B; Cerovská, E; Hyánek, J; Pazoutová, N; Rákosníková, M	1
Brown, SB; Goodman, SI; Mace, JW; Miles, BS; Teng, CC	1
Ampola, MG; Efron, ML	1
Menne, F	1
Alderman, MH; Frimpter, GW; Isaacs, M; Scheiner, E	1
Buravina, TA; Iur'eva, EA; Koroleva, IA; Lebedev, VP; Mukhina, IuG	1
Brown, DA; Turner, B	1
Blake, RL; Russell, ES	1
Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN	1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O	1
Delvin, E; Glorieux, FH; Mohyuddin, F; Scriver, CR	1
Griffiths, MI	1
Raine, DN	1
Casteleyn, PP; Moyson, F; Wittek, F	1
Dogan, K; Dogan, S; Lipovac, K	1
Harris, JA; Snyder, CH; Woody, NC	1
Dodinval, P; Gottschalk, C; Hainaut, H; Heusden, AM; Willems, C	1
Dautrevaux, M; Farriaux, JP; Fontaine, G	1
Fuller, GC; Langner, RO	1
Botella García, J; Guardiola Vicente, JM; Ortuño Mirete, J	1
Tada, K; Takada, G	1
Albert, J; Collombel, C; David, M; Guerrier, G; Guibaud, P; Jeune, M; Michel, M	1
Francis, DE; Harries, JT; Piesowicz, AT; Seakins, JW; Wolff, OH	1
Chapelle, P; Hainaut, H; Hariga, J; Heusden, A; Willems, C	1
Arakawa, T; Hirono, H; Tada, K	1
Scriver, CR; Whelan, DT	1
Burke, J; Burkholder, P; Goyer, RA; Reynolds, J	1
Fowler, B; Griffiths, MJ; Komrower, GM; Lambert, AM	1
Piesowicz, AT	1
Loken, AC; Rokkones, T	1
Fraser, GR; Friedmann, AI; Patton, VM; Wade, DN; Woolf, LI	1
Goyer, RA; Leonard, DL; Mitchell, BJ	1
Blattner, RJ	1
Berger, R; Broyer, M	1
Tada, K	1
Selkoe, DJ	1
Antener, I; Dubach, UC; Minder, FC	1

Reviews

23 review(s) available for proline and Amino Acid Metabolism Disorders, Inborn

Article	Year
Amino acid synthesis deficiencies. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:4 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine	2017
Structure, function, and mechanism of proline utilization A (PutA). Archives of biochemistry and biophysics, 2017, 10-15, Volume: 632 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Bacterial Proteins; Flavin-Adenine Dinucleotide; Flavoproteins; Gram-Negative Bacteria; Humans; Membrane Proteins; Proline; Proline Oxidase	2017
PRODH variants and risk for schizophrenia. Amino acids, 2008, Volume: 35, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Gene Expression Regulation; Genetic Linkage; Heterozygote; Humans; Mice; Models, Biological; Models, Genetic; Phenotype; Proline; Regression Analysis; Schizophrenia	2008
Behavioral and neurochemical effects of proline. Metabolic brain disease, 2011, Volume: 26, Issue:3 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Ascorbic Acid; Brain; Brain Diseases, Metabolic; Creatine Kinase; Energy Metabolism; Free Radicals; Glycine; Gyrate Atrophy; Humans; Memory Disorders; Mice; Oxidative Stress; Proline; Proline Oxidase; Rats; Receptors, Cholinergic; Receptors, Purinergic; Renal Tubular Transport, Inborn Errors; Sodium-Potassium-Exchanging ATPase; Vitamin E	2011
AMINOACIDURIA. The New England journal of medicine, 1965, May-27, Volume: 272 Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cystinuria; Histidine; Homocysteine; Humans; Hydroxyproline; Kidney; Methionine; Proline; Renal Aminoacidurias	1965
A survey of inborn errors of amino acid metabolism and transport in man. Annual review of biochemistry, 1981, Volume: 50 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine	1981
Disorders of glutamate metabolism and neurological dysfunction. Annual review of medicine, 1981, Volume: 32 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; gamma-Aminobutyric Acid; Glutamates; Glutamine; Glutathione; Histidine; Humans; Ketoglutaric Acids; Nervous System Diseases; Proline; Pyrrolidonecarboxylic Acid	1981
[Hyperprolinemia type I]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Prognosis; Proline; Proline Oxidase	1998
[Hyperprolinemia type II]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Oxidoreductases Acting on CH-NH Group Donors; Prognosis; Proline	1998
[Prolidase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Dipeptidases; Dipeptides; Humans; Mutation; Prognosis; Proline	1998
[Familial iminoglycinuria]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Genotype; Glycine; Humans; Hydroxyproline; Mutation; Phenotype; Prognosis; Proline; Renal Tubular Transport, Inborn Errors	1998
[Hyperprolinemia]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; delta-1-Pyrroline-5-Carboxylate Reductase; Diagnosis, Differential; Humans; Intellectual Disability; Proline; Pyrroline Carboxylate Reductases; Seizures	2000
[Hyperprolinemia]. Ryoikibetsu shokogun shirizu, 2001, Issue:33 Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Male; Proline; Proline Oxidase	2001
[Eye manifestations of amino acid disorders]. Minerva pediatrica, 1978, May-31, Volume: 30, Issue:10 Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria; Eye Diseases; Eye Manifestations; Glycine; Hartnup Disease; Hepatolenticular Degeneration; Homocystinuria; Humans; Lysine; Oculocerebrorenal Syndrome; Oxidoreductases; Phenylketonurias; Proline; Pyruvates	1978
The metabolic formation and utilization of 5-oxo-L-proline (L-pyroglutamate, L-pyrrolidone carboxylate). Advances in enzymology and related areas of molecular biology, 1975, Volume: 43 Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Animals; Bacteria; Mice; Organ Specificity; Proline; Pyroglutamate Hydrolase; Pyrrolidinones; Pyrrolidonecarboxylic Acid; Species Specificity	1975
The gamma-glutamyl cycle. Diseases associated with specific enzyme deficiencies. Annals of internal medicine, 1974, Volume: 81, Issue:2 Topics: Acyltransferases; Adult; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Anemia, Hemolytic; Cell Membrane Permeability; Child, Preschool; Cysteine; Erythrocytes; Female; gamma-Glutamyltransferase; Glutamates; Glutathione; Glycine; Humans; Infant; Infant, Newborn; Kidney; Male; Peptide Synthases; Proline; Pyrrolidonecarboxylic Acid	1974
Phenylketonuria and other disorders of amino acid metabolism. Pediatric clinics of North America, 1973, Volume: 20, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1973
Aminoacidurias due to inherited disorders of metabolism. 2. The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17 Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; Dipeptides; Glutarates; Glycine; Histidine; Humans; Hydroxyproline; Hyperglycemia; Infant, Newborn; Keto Acids; Lysine; Malonates; Maple Syrup Urine Disease; Ornithine Carbamoyltransferase; Phosphotransferases; Proline; Sarcosine; Succinates; Urea; Valine	1973
The aminoacidurias. Pediatric clinics of North America, 1967, Volume: 14, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine	1967
Use of human genetic variation to study membrane transport of amino acids in kidney. American journal of diseases of children (1960), 1969, Volume: 117, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Child; Cysteine; Genetics, Medical; Heterozygote; Homozygote; Humans; Kidney; Lysine; Male; Mutation; Proline; Renal Tubular Transport, Inborn Errors	1969
[Feeble mindedness caused by genetic disorders of amino acid metabolism]. Hippokrates, 1968, May-31, Volume: 39, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine	1968
Dietary proline in familial aminoaciduria. Nutrition reviews, 1969, Volume: 27, Issue:9 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Urea Nitrogen; Diet Therapy; Dietary Proteins; Female; Hearing Disorders; Humans; Ichthyosis; Kidney Diseases; Proline; Time Factors	1969
[Primary and secondary hyperaminoaciduria in children (review of the literature)]. Voprosy okhrany materinstva i detstva, 1970, Volume: 15, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Cystinuria; Fanconi Syndrome; Glycine; Glycosuria, Renal; Hartnup Disease; Histidine; Humans; Infant, Newborn; Kidney Diseases; Kidney Tubules; Maple Syrup Urine Disease; Phenylketonurias; Proline; Renal Aminoacidurias; Renal Tubular Transport, Inborn Errors; Sodium	1970

Other Studies

147 other study(ies) available for proline and Amino Acid Metabolism Disorders, Inborn

Article	Year
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II. Communications biology, 2022, 09-21, Volume: 5, Issue:1 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Biomarkers; Phosphates; Proline; Proline Oxidase; Pyridoxal; Pyrroles	2022
Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant. Metabolic brain disease, 2021, Volume: 36, Issue:6 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Brain; Codon, Nonsense; DNA; Drug Resistant Epilepsy; Electroencephalography; Epilepsy; Female; Genetic Variation; Humans; Infant; Magnetic Resonance Imaging; Proline	2021
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. Schizophrenia research, 2014, Volume: 156, Issue:1 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Fasting; Female; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Models, Statistical; Mutation; Proline; Proline Oxidase; Risk Factors; Schizophrenia; Vitamin D; Vitamin D Deficiency; Young Adult	2014
Long-term neuropsychiatric follow-up in hyperprolinemia type I. Psychiatric genetics, 2014, Volume: 24, Issue:4 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Follow-Up Studies; Humans; Intelligence Tests; Male; Neuropsychological Tests; Proline; Proline Oxidase; Time Factors; Young Adult	2014
Biochemical and clinical features of hereditary hyperprolinemia. Pediatrics international : official journal of the Japan Pediatric Society, 2014, Volume: 56, Issue:4 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Humans; Japan; Proline; Proline Oxidase	2014
Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. The international journal of biochemistry & cell biology, 2014, Volume: 54 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Ascorbic Acid; Dietary Supplements; DNA; DNA Damage; Lipids; Male; Malondialdehyde; Oxidation-Reduction; Oxidative Stress; Proline; Proline Oxidase; Proteins; Rats; Rats, Wistar; Vitamin E; Vitamins	2014
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Developmental Disabilities; Female; Fibroblasts; Glutamic Acid; Humans; Infant; Infant, Newborn; Male; Mitochondria; Mitochondria, Liver; Mitochondrial Membrane Transport Proteins; Muscle Hypotonia; Mutation; Proline; Seizures	2017
Inborn errors of proline metabolism. The Journal of nutrition, 2008, Volume: 138, Issue:10 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Chromosome Mapping; Citric Acid Cycle; delta-1-Pyrroline-5-Carboxylate Reductase; Dipeptidases; Gene Deletion; Humans; Mental Disorders; Nervous System Diseases; Proline; Proline Oxidase; Pyrroline Carboxylate Reductases	2008
Type I hyperprolinemia: genotype/phenotype correlations. Human mutation, 2010, Volume: 31, Issue:8 Topics: Adolescent; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Child; Child, Preschool; Female; Genetic Association Studies; Humans; Infant; Male; Mutation, Missense; Proline; Proline Oxidase	2010
Drosophila delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDh) is required for proline breakdown and mitochondrial integrity-Establishing a fly model for human type II hyperprolinemia. Mitochondrion, 2011, Volume: 11, Issue:3 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; DNA Transposable Elements; Drosophila melanogaster; Female; Male; Mitochondria; Proline; Proline Oxidase; Sequence Deletion; Survival Analysis	2011
Role of antioxidants on Na(+),K (+)-ATPase activity and gene expression in cerebral cortex of hyperprolinemic rats. Metabolic brain disease, 2011, Volume: 26, Issue:2 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Animals; Antioxidants; Ascorbic Acid; Cerebral Cortex; Disease Models, Animal; Drug Synergism; Gene Expression; Humans; Lipid Peroxidation; Oxidative Stress; Proline; Proline Oxidase; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Synaptic Membranes; Thiobarbituric Acid Reactive Substances; Vitamin E	2011
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. Schizophrenia research, 2011, Volume: 131, Issue:1-3 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Analysis of Variance; Brief Psychiatric Rating Scale; Case-Control Studies; Chi-Square Distribution; Cross-Sectional Studies; Enzyme Inhibitors; Female; Humans; Male; Middle Aged; Proline; Proline Oxidase; Schizophrenia; Valproic Acid; Young Adult	2011
Hyperprolinemic larvae of the drosophilid fly, Chymomyza costata, survive cryopreservation in liquid nitrogen. Proceedings of the National Academy of Sciences of the United States of America, 2011, Aug-09, Volume: 108, Issue:32 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Acclimatization; Adaptation, Physiological; Amino Acid Metabolism, Inborn Errors; Animals; Body Water; Calorimetry, Differential Scanning; Cryopreservation; Diet; Drosophilidae; Feeding Behavior; Freezing; Glass; Larva; Nitrogen; Osmosis; Principal Component Analysis; Proline; Proline Oxidase; Survival Analysis	2011
Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. Journal of cellular biochemistry, 2012, Volume: 113, Issue:1 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Antioxidants; Blood Glucose; Catalase; Female; Fluoresceins; Glutathione; Glutathione Peroxidase; Glycogen; Lipids; Liver; Male; Oxidative Stress; Proline; Proline Oxidase; Rats; Rats, Wistar; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances	2012
Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish. Progress in neuro-psychopharmacology & biological psychiatry, 2012, Mar-30, Volume: 36, Issue:2 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Animals; Antipsychotic Agents; Anxiety; Disease Models, Animal; Drug Interactions; Female; Haloperidol; Locomotion; Male; Proline; Proline Oxidase; Social Behavior; Sulpiride; Time Factors; Zebrafish	2012
Cytoskeleton of cortical astrocytes as a target to proline through oxidative stress mechanisms. Experimental cell research, 2013, Feb-01, Volume: 319, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Antioxidants; Astrocytes; Cell Survival; Cells, Cultured; Cerebral Cortex; Cytoskeleton; Embryo, Mammalian; Oxidative Stress; Proline; Rats; Rats, Wistar; Reactive Oxygen Species	2013
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. Journal of medical genetics, 2003, Volume: 40, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 22; Consanguinity; Homozygote; Humans; Male; Phenotype; Proline; Proline Oxidase	2003
A novel pyrroline-5-carboxylic acid and acetoacetic acid adduct in hyperprolinaemia type II. Clinica chimica acta; international journal of clinical chemistry, 2003, Volume: 331, Issue:1-2 Topics: Acetoacetates; Amino Acid Metabolism, Inborn Errors; Child; Female; Gas Chromatography-Mass Spectrometry; Humans; Proline; Pyridoxal Phosphate; Pyrroles; Stereoisomerism	2003
Evidence that oxidative stress is involved in the inhibitory effect of proline on Na(+),K(+)-ATPase activity in synaptic plasma membrane of rat hippocampus. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2003, Volume: 21, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Enzyme Activation; Hippocampus; Oxidative Stress; Proline; Rats; Rats, Wistar; Reference Values; Sodium-Potassium-Exchanging ATPase; Synaptic Membranes; Vitamin E	2003
RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA. The Journal of clinical investigation, 1964, Volume: 43 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Child; Genetics, Medical; Glycine; Humans; Hydroxyproline; Kidney; Kidney Tubules; Proline; Proline Oxidase; Proteins; Renal Aminoacidurias	1964
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. The New England journal of medicine, 1964, Jun-25, Volume: 270 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulline; Glycine; Histidine; Homocysteine; Humans; Hydroxyproline; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proline; Proteins; Renal Aminoacidurias; Urine	1964
HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS. Lancet (London, England), 1964, Nov-21, Volume: 2, Issue:7369 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Blood; Blood Chemical Analysis; Chromatography; Diseases in Twins; Fluids and Secretions; Genetics, Medical; Glycine; Humans; Hydroxyproline; Nephritis, Hereditary; Nephrotic Syndrome; Pathology; Proline; Proline Oxidase; Proteinuria; Urine	1964
MENTAL RETARDATION AND ABNORMAL AMINOACIDURIAS OCCURRING IN A FAMILY. The New Zealand medical journal, 1965, Volume: 64 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Alcohols; Aminobutyrates; Chromatography; Genetics, Medical; Humans; Infant; Infant, Newborn; Intellectual Disability; Kidney; Phosphates; Physiognomy; Proline; Renal Aminoacidurias; Urine	1965
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT. The New England journal of medicine, 1965, Jun-17, Volume: 272 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Blood; Cerebrospinal Fluid; Child; Clinical Enzyme Tests; Congenital Abnormalities; Genetics, Medical; Hematuria; Humans; Intellectual Disability; Kidney Diseases; Nephritis, Hereditary; Proline; Proline Oxidase; Urine	1965
IMINOACIDOPATHIES. The New England journal of medicine, 1965, Jun-24, Volume: 272 Topics: Amino Acid Metabolism, Inborn Errors; Hydroxyproline; Proline	1965
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. European journal of pediatrics, 2005, Volume: 164, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cataract; Child; Child, Preschool; Citrulline; delta-1-Pyrroline-5-Carboxylate Reductase; Female; Humans; Hyperammonemia; Male; Mutation, Missense; Ornithine; Phenotype; Proline; Pyrroline Carboxylate Reductases	2005
Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. Metabolic brain disease, 2005, Volume: 20, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Chronic Disease; Disease Models, Animal; Male; Maze Learning; Memory Disorders; Memory, Short-Term; Proline; Rats; Rats, Wistar; Reaction Time	2005
Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Encephalitis, Viral; Humans; Influenza, Human; Male; Orthomyxoviridae; Proline	2005
Presence and origin of large amounts of D-proline in the urine of mutant mice lacking D-amino acid oxidase activity. Analytical and bioanalytical chemistry, 2006, Volume: 386, Issue:3 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, High Pressure Liquid; D-Amino-Acid Oxidase; Male; Mice; Mice, Knockout; Organ Specificity; Proline; Stereoisomerism	2006
Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase. Journal of molecular biology, 2006, Sep-22, Volume: 362, Issue:3 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Catalytic Domain; Crystallography, X-Ray; Dimerization; Humans; Kinetics; Models, Molecular; Molecular Sequence Data; NAD; Proline; Protein Folding; Protein Structure, Quaternary; Protein Subunits; Sequence Homology, Amino Acid; Static Electricity; Thermus thermophilus	2006
Introduction to second proline symposium. Amino acids, 2008, Volume: 35, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Gene Expression Regulation, Neoplastic; Humans; Metabolism; Models, Biological; Neoplasms; Neurophysiology; Ornithine-Oxo-Acid Transaminase; Proline	2008
Proline metabolism in health and disease. Preface. Amino acids, 2008, Volume: 35, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Bacteria; Humans; Models, Biological; Oxidation-Reduction; Plants; Proline; Proline Oxidase; Tumor Suppressor Protein p53	2008
Treatment of hydroxyprolinemia and hyperprolinemia. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydroxyproline; Proline	1967
Membrane transport in disorders of imino-acid metabolism. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Hydroxyproline; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Proline; Renal Tubular Transport, Inborn Errors	1967
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease. Analytical biochemistry, 1967, Volume: 20, Issue:2 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; Chromatography, Ion Exchange; Citrates; Cysteine; Cystine; Glutamates; Glutamine; Glycine; Humans; Hydrogen-Ion Concentration; Hydroxyproline; Isoleucine; Phenylalanine; Proline; Sarcosine; Serine; Threonine; Tyrosine; Valine	1967
Maternal hyperprolinaemia. Lancet (London, England), 1980, Nov-01, Volume: 2, Issue:8201 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant, Newborn; Maternal-Fetal Exchange; Pregnancy; Pregnancy Complications; Proline	1980
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria. Clinica chimica acta; international journal of clinical chemistry, 1982, Feb-05, Volume: 118, Issue:2-3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspartate Ammonia-Lyase; Cells, Cultured; Citrulline; Fibroblasts; Glutamates; Glutamic Acid; Humans; Lymphocyte Activation; Lymphocytes; Ornithine; Phytohemagglutinins; Proline	1982
Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Biological Transport, Active; Cells, Cultured; Child; Fibroblasts; Glyceric Acids; Glycine; Humans; Kinetics; Proline; Valine	1983
Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Cells, Cultured; Citrulline; Fibroblasts; Glutamine; Humans; Mitochondria; Ornithine; Proline; Proteins	1983
Substrate specificity of manganese-activated prolidase in control and prolidase-deficient cultured skin fibroblasts. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gel; Chromatography, Ion Exchange; Dipeptidases; Fibroblasts; Humans; Male; Manganese; Proline; Skin; Substrate Specificity	1984
In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia. Journal of inherited metabolic disease, 1984, Volume: 7, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Dehydrogenases; Child, Preschool; Diet; Fructose; Glyceric Acids; Glycine; Humans; Male; Proline; Propionates; Riboflavin; Serine	1984
Measurement of prolidase activity in erythrocytes using isotachophoresis. Journal of chromatography, 1984, Oct-12, Volume: 310, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Dipeptidases; Dipeptides; Erythrocytes; Female; Glycine; Humans; Imino Acids; Male; Proline; Rats	1984
Prolidase deficiency with iminodipeptiduria: biochemical investigations and first results of attempted therapy. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid; Dipeptidases; Dipeptides; Erythrocytes; Female; Humans; Hydroxyproline; Manganese; Phenytoin; Proline	1981
A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase. Clinical genetics, 1983, Volume: 23, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Female; Humans; Infant, Newborn; Ligases; Liver; Ornithine; Ornithine-Oxo-Acid Transaminase; Proline; Transaminases	1983
[Manifold reflection infrared spectroscopy of the hair of mice with an experimental amino acid metabolism disease (L-acetidin-2-carboxylic acid incorporation instead of proline). A model for the use of infrared spectroscopy as a screening method for metab Zeitschrift fur Hautkrankheiten, 1983, May-01, Volume: 58, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Thin Layer; Hair; Mice; Proline; Spectrum Analysis	1983
The pancreatic beta cell fraction in children with errors of amino acid metabolism. Pediatric research, 1982, Volume: 16, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Homocystinuria; Humans; Infant; Infant, Newborn; Islets of Langerhans; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine	1982
Screening method for prolidase deficiency. Human genetics, 1981, Volume: 56, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Clinical Enzyme Tests; Dipeptidases; Erythrocytes; Female; Humans; Male; Mass Screening; Proline	1981
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Human genetics, 1997, Volume: 101, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 22; Cloning, Molecular; DNA Primers; DNA, Complementary; Drosophila melanogaster; Female; Genes, Insect; Humans; Molecular Sequence Data; Phenotype; Pregnancy; Proline; Proline Oxidase; Sequence Homology, Amino Acid; Species Specificity	1997
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Human molecular genetics, 1998, Volume: 7, Issue:9 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Cell Line; DNA Primers; DNA, Complementary; Female; Frameshift Mutation; Gene Expression; Humans; Male; Mutation; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Point Mutation; Polymerase Chain Reaction; Proline; Saccharomyces cerevisiae	1998
The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nature genetics, 1999, Volume: 21, Issue:4 Topics: Acoustic Stimulation; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Behavior, Animal; Blotting, Northern; Brain; Chromosomes, Human, Pair 22; Female; Humans; Insect Proteins; Male; Mice; Mice, Mutant Strains; Molecular Sequence Data; Mutation; Neurotransmitter Agents; Proline; Proline Oxidase; Reflex, Startle; Sequence Homology, Amino Acid	1999
Proline administration decreases Na+,K+-ATPase activity in the synaptic plasma membrane from cerebral cortex of rats. Metabolic brain disease, 1999, Volume: 14, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cerebral Cortex; Neurons; Proline; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Synapses; Synaptosomes	1999
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Human molecular genetics, 2000, Nov-22, Volume: 9, Issue:19 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Catalytic Domain; Child; CHO Cells; Citrulline; Cricetinae; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Hyperammonemia; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; RNA, Messenger; Transfection	2000
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:8 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Infant; Infant, Newborn; Male; Proline; Proline Oxidase; Syndrome	2000
Prolidase deficiency with hyperimmunoglobulin E: a case report. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2002, Volume: 13, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child; Dipeptidases; Female; Humans; Hydroxyproline; Hypergammaglobulinemia; Immunoglobulin E; Proline	2002
Biochemical, morphological and hybrid studies in hyperprolinemic mice. Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1975, Volume: 22, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Animals; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Glycine; Humans; Hybridization, Genetic; Hydrogen-Ion Concentration; Hydroxyproline; Kidney; Liver; Mice; Mice, Inbred Strains; Mitochondria, Liver; Pedigree; Proline	1975
Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina. The Journal of laboratory and clinical medicine, 1979, Volume: 93, Issue:5 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Atrophy; Child; Child, Preschool; Choroid; Female; Glutamates; Humans; Lysine; Male; Middle Aged; Ornithine; Proline; Retina	1979
Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems. Pediatric research, 1979, Volume: 13, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Glycine; Humans; Imino Acids; Infant, Newborn; Kidney Tubules; Mutation; Proline; Renal Tubular Transport, Inborn Errors; Syndrome	1979
Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. Clinical biochemistry, 1979, Volume: 12, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Ion Exchange; Chromatography, Paper; Humans; Proline; Pyrroles	1979
Prolidase deficiency with imidodipeptiduria. A familial case with and without clinical symptoms. Clinica chimica acta; international journal of clinical chemistry, 1979, May-02, Volume: 93, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aspartic Acid; Dipeptidases; Dipeptides; Erythrocytes; Female; Glutamates; Glycine; Humans; Leg Ulcer; Male; Middle Aged; Proline; Skin	1979
Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline. The Journal of clinical investigation, 1979, Volume: 64, Issue:5 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Fibroblasts; Glutamates; Heterozygote; Humans; Hydroxyproline; Leukocytes; Oxidoreductases Acting on CH-NH Group Donors; Proline; Pyrroline Carboxylate Reductases	1979
Hydroxyproline metabolism in type II hyperprolinaemia. Annals of clinical biochemistry, 1979, Volume: 16, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Glycine; Humans; Hydroxyproline; Male; Metabolic Clearance Rate; Ornithine; Proline; Pyrroles	1979
A patient with hypophosphatasia and hyperprolinaemia. The Netherlands journal of medicine, 1978, Volume: 21, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Female; Humans; Hypophosphatasia; Middle Aged; Proline	1978
Non-chromatographic screening test for hyperprolinemia. Clinical chemistry, 1978, Volume: 24, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Colorimetry; Humans; Mass Screening; Proline	1978
Studies on a patient with iminodipeptiduria. II. Lack of prolidase activity in blood cells. Physiological chemistry and physics, 1978, Volume: 10, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Dipeptidases; Dipeptides; Erythrocytes; Female; Genes, Recessive; Humans; Leukocytes; Pedigree; Proline	1978
Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes. Canadian Medical Association journal, 1975, Oct-18, Volume: 113, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Collagen; Dipeptidases; Dipeptides; Erythrocytes; Female; Humans; Hydroxyproline; Proline	1975
Hyperprolinaemia: a disease which does not need treatment? Acta paediatrica Scandinavica, 1976, Volume: 65, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Infant; Proline	1976
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions. Clinics in perinatology, 1976, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; Disulfides; Glycine; Hartnup Disease; Histidine; Histidine Ammonia-Lyase; Homocystinuria; Humans; Methionine; Proline; Sulfites	1976
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". Helvetica paediatrica acta, 1976, Volume: 31, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Female; Glycine; Humans; Hydroxyproline; Imino Acids; Infant; Intellectual Disability; Intestinal Absorption; Phenotype; Proline	1976
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. The Journal of clinical investigation, 1976, Volume: 58, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Cells, Cultured; Female; Fibroblasts; Humans; In Vitro Techniques; Leukocytes; Lymphocytes; Male; Oxidoreductases; Pedigree; Proline; Pyrroles; Skin	1976
Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1976, Volume: 173, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Iris; Male; Proline	1976
Mitochondrial proline dehydrogenase deficiency in hyperprolinemic PRO/Re mice: genetic and enzymatic analyses. Biochemical genetics, 1976, Volume: 14, Issue:9-10 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Animals; Genes; Hot Temperature; Kinetics; Mice; Mice, Inbred C57BL; Mitochondria, Liver; Oxygenases; Proline; Species Specificity; Vitamin K	1976
[Results of a period of research (1967-1974) in the field of disorders of transport amino acid and metabolism using chromatographic, electrophoretic and dosimetric methods]. Minerva pediatrica, 1975, Sep-29, Volume: 27, Issue:30 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Electrophoresis; Female; Glycine; Humans; Hydroxyproline; Infant; Lysine; Male; Proline	1975
Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs. Archives of disease in childhood, 1975, Volume: 50, Issue:8 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Fasting; Female; Glycine; Humans; Infant; Male; Proline	1975
On the mechanism of 5-oxoproline overproduction in 5-oxoprolinuria. Clinica chimica acta; international journal of clinical chemistry, 1976, Mar-15, Volume: 67, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Erythrocytes; Glutathione; Glycine; Humans; Kinetics; Peptide Synthases; Proline; Pyrrolidinones; Pyrrolidonecarboxylic Acid	1976
Type II hyperprolinaemia with renal involvement. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Humans; Kidney Diseases; Male; Morocco; Proline	1991
[A case of type I hyperprolinemia associated with photogenic epilepsy]. No to hattatsu = Brain and development, 1991, Volume: 23, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Epilepsy; Female; Humans; Light; Proline; Proline Oxidase	1991
High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia. Clinical genetics, 1990, Volume: 37, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Consanguinity; Electroencephalography; Glycine; Growth Disorders; Humans; Infant; Male; Proline; Pyrroles; Recurrence; Seizures	1990
Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). Archives of disease in childhood, 1989, Volume: 64, Issue:12 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Ireland; Male; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Proline; Seizures; Transients and Migrants	1989
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine	1988
Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. The Tohoku journal of experimental medicine, 1987, Volume: 151, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, Pair 10; Female; Humans; Infant, Newborn; Karyotyping; Liver; Proline; Proline Oxidase	1987
Differences in learning between hyperprolinemic mice and their congenic controls. Behavioral and neural biology, 1987, Volume: 48, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Genotype; Learning Disabilities; Male; Mice; Mice, Inbred C57BL; Mice, Inbred Strains; Proline	1987
Hyperprolinaemia. Lancet (London, England), 1971, May-08, Volume: 1, Issue:7706 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Proline	1971
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). Proceedings of the National Academy of Sciences of the United States of America, 1974, Volume: 71, Issue:6 Topics: Acyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Female; gamma-Glutamyltransferase; Glutathione; Humans; Infant; Infant, Newborn; Male; Peptide Synthases; Placenta; Proline; Pyrrolidinones; Pyrrolidonecarboxylic Acid	1974
Set of simple side-room urine tests for detection of inborn errors of metabolism. British medical journal, 1968, Jun-22, Volume: 2, Issue:5607 Topics: Amino Acid Metabolism, Inborn Errors; Copper; Glycosaminoglycans; Glycosuria; Humans; Infant; Keto Acids; Mass Screening; Metabolism, Inborn Errors; Microscopy; Proline; Tyrosine; Urine	1968
Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis. The American journal of pathology, 1970, Volume: 59, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arteriosclerosis; Carbon Isotopes; Chemical Phenomena; Chemistry; Child; Chromatography; Culture Techniques; Cytoplasmic Granules; Female; Glycoproteins; Glycosaminoglycans; Homocysteine; Humans; Hydroxyproline; L-Serine Dehydratase; Proline; Skin	1970
The philosophy and practice of screening for inherited diseases. Pediatrics, 1974, Volume: 53, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Child; Child, Preschool; Chromatography, Paper; Chromosome Aberrations; Clinical Enzyme Tests; Costs and Cost Analysis; Down Syndrome; Female; Genetic Counseling; Genetic Diseases, Inborn; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Karyotyping; Male; Mass Screening; Phenylketonurias; Philosophy, Medical; Pregnancy; Prenatal Diagnosis; Proline; Sex Determination Analysis	1974
Hyperprolinaemia in two successive generations of a North American Indian family. Annals of human genetics, 1968, Volume: 31, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; British Columbia; Child; Child, Preschool; Female; Humans; Indians, North American; Infant; Intellectual Disability; Male; Middle Aged; Pedigree; Proline; Wilms Tumor	1968
Amino acid transport by isolated mammalian renal tubules. II. Transport systems for L-proline. The Journal of biological chemistry, 1969, Aug-25, Volume: 244, Issue:16 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport, Active; Carbon Isotopes; Depression, Chemical; Glycine; Kidney Tubules; Kinetics; Microbial Collagenase; Mutation; Proline; Rabbits; Sodium; Time Factors	1969
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. Science (New York, N.Y.), 1974, Sep-20, Volume: 185, Issue:4156 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Carboxylic Acids; Child, Preschool; Female; Fibroblasts; Glutamates; Humans; Male; NAD; Ornithine; Oxidoreductases; Proline; Pyrroles	1974
Hydroxyprolinemia: an apparently harmless familial metabolic disorder. The New England journal of medicine, 1970, Aug-27, Volume: 283, Issue:9 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Collagen; D-Amino-Acid Oxidase; Female; Genes, Recessive; Glycine; Heterozygote; Homozygote; Humans; Hydroxyproline; Male; Pedigree; Proline	1970
Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism. Pediatric research, 1974, Volume: 8, Issue:10 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Bicarbonates; Body Height; Body Weight; Carbon Dioxide; Child, Preschool; Erythrocytes; Female; Glutathione; Humans; Hydrogen-Ion Concentration; Infant; Infant, Newborn; Pregnancy; Proline; Sodium	1974
[Screening test detection of genetic errors of metabolism in children with hearing defects (author's transl)]. Laryngologie, Rhinologie, Otologie, 1974, Volume: 53, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Glycine; Hearing Disorders; Humans; Mass Screening; Metabolism, Inborn Errors; Proline	1974
[Hyperprolinemia type I]. Ugeskrift for laeger, 1974, Oct-28, Volume: 136, Issue:44 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Proline	1974
[Hyperprolinemia type II]. Ugeskrift for laeger, 1974, Nov-04, Volume: 136, Issue:45 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Infant; Proline	1974
Formation and excretion of pyrrole-2-carboxylate in man. The Journal of clinical investigation, 1974, Volume: 54, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Carbon Radioisotopes; Carboxylic Acids; Chromatography, Ion Exchange; Female; Humans; Hydroxyproline; Male; Middle Aged; Proline; Pyrroles; Rats; Tritium	1974
Animal model for hyperprolinaemia: deficiency of mouse proline oxidase activity. The Biochemical journal, 1972, Volume: 129, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Mice; Mice, Inbred Strains; Oxidoreductases; Proline; Proteinuria	1972
Familial hyperprolinemia without mental retardation and hereditary nephropathy. Monographs in human genetics, 1972, Volume: 6 Topics: Amino Acid Metabolism, Inborn Errors; Epilepsy; Female; Glycine; Humans; Infant; Intellectual Disability; Kidney Diseases; Male; Proline; Pyrrolidonecarboxylic Acid	1972
Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency. Metabolism: clinical and experimental, 1972, Volume: 21, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Ion Exchange; Dansyl Compounds; Dipeptidases; Dipeptides; Humans; Hydroxyproline; Kidney; Oligopeptides; Peptides; Proline; Swine; Ultrafiltration	1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine	1972
Hyperprolinemia. I. Study of a large family. The Journal of pediatrics, 1973, Volume: 83, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycine; Humans; Hydroxyproline; Infant; Male; Proline	1973
Iminoglycinuria in a child in Czechoslovakia. Humangenetik, 1973, Jul-20, Volume: 19, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Cerebrospinal Fluid Proteins; Deafness; Female; Glycine; Humans; Hydroxyproline; Infant; Intelligence; Intestinal Absorption; Male; Pedigree; Proline; Seizures; Time Factors	1973
The relationship between proline and hydroxyproline urinary excretion in human as an index of collagen catabolism. Clinica chimica acta; international journal of clinical chemistry, 1973, Oct-12, Volume: 48, Issue:2 Topics: Adolescent; Adult; Aging; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Gel; Chromatography, Ion Exchange; Collagen; Diet; Female; Gelatin; Humans; Hydroxyproline; Infant; Male; Marfan Syndrome; Middle Aged; Paraplegia; Peptides; Proline; Psoriasis; Scleroderma, Systemic	1973
Pyroglutamic aciduria: rate of formation and degradation of pyroglutamate. Clinica chimica acta; international journal of clinical chemistry, 1973, Dec-27, Volume: 49, Issue:3 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Carbon Radioisotopes; Chromatography, Ion Exchange; Dogs; Glutamates; Humans; Kidney; Kinetics; Mathematics; Nephrectomy; Proline; Pyrrolidinones; Pyrrolidonecarboxylic Acid; Time Factors	1973
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. Metabolism: clinical and experimental, 1974, Volume: 23, Issue:2 Topics: Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Aspartic Acid; Biological Transport; Blood Glucose; Child; Child, Preschool; Fasting; Female; Glutamates; Humans; Hypothyroidism; Infant; Intestinal Mucosa; Kidney Function Tests; Proline	1974
[Familial hyperprolinemia--a case in a family]. Polskie Archiwum Medycyny Wewnetrznej, 1974, Volume: 51, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child, Preschool; Epilepsy; Female; Hematuria; Humans; Intellectual Disability; Kidney Diseases; Male; Pedigree; Proline; Pyuria	1974
Dietary treatment in hyperprolinaemia type II. Acta paediatrica Scandinavica, 1974, Volume: 63, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Diet Therapy; Dietary Proteins; Electroencephalography; Growth; Humans; Infant; Intellectual Disability; Male; Proline	1974
Increased taurine excretion in hereditary hyperprolinemia of the mouse. Life sciences, 1974, Apr-01, Volume: 14, Issue:7 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Thin Layer; Glycine; Mice; Mice, Inbred C57BL; Mice, Inbred CBA; Proline; Taurine	1974
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. American journal of diseases of children (1960), 1974, Volume: 127, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female; Humans; Intellectual Disability; Lysine; Mitochondria; Ornithine; Ornithine Carbamoyltransferase; Proline; Transaminases	1974
Hyperprolinemia type II. Clinical biochemistry, 1974, Volume: 7, Issue:1 Topics: Alanine Transaminase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartate Aminotransferases; Blood Protein Electrophoresis; Body Height; Body Weight; Borohydrides; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Creatinine; Electroencephalography; Female; Glutamine; Humans; Immunoglobulin A; Immunoglobulin G; L-Lactate Dehydrogenase; Male; Proline; Spectrophotometry; Spectrophotometry, Ultraviolet	1974
[Hyperprolinuria]. Ceskoslovenska pediatrie, 1974, Volume: 29, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Pedigree; Proline	1974
Defective hydroxyproline metabolism in type II hyperprolinemia. Biochemical medicine, 1974, Volume: 10, Issue:4 Topics: Amines; Amino Acid Metabolism, Inborn Errors; Amino Acids; Benzaldehydes; Carboxylic Acids; Child; Chromatography, Ion Exchange; Female; Glycine; Humans; Hydroxyproline; Imino Acids; Proline; Pyrroles	1974
Glycylproline peptiduria in familial hyperostosis of obscure nature. Metabolism: clinical and experimental, 1969, Volume: 18, Issue:8 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Paper; Collagen; Consanguinity; Dipeptides; Female; Glycine; Humans; Hydroxyproline; Hyperostosis, Cortical, Congenital; Pedigree; Proline	1969
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants. The Medical journal of Australia, 1972, Jan-08, Volume: 1, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline	1972
Hyperprolinemia and prolinuria in a new inbred strain of mice, PRO-Re. Science (New York, N.Y.), 1972, May-19, Volume: 176, Issue:4036 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Chromatography, Paper; Electrophoresis; Female; Male; Mice; Mice, Inbred Strains; Proline; Rodent Diseases	1972
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city. British medical journal, 1972, Jul-01, Volume: 3, Issue:5817 Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine; Humans; Hyperlipidemias; Infant, Newborn; Mass Screening; Methionine; Midwifery; Phenylalanine; Phenylketonurias; Postal Service; Proline; Time Factors; Tyrosine; United Kingdom	1972
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report]. Wiener klinische Wochenschrift, 1972, Volume: 84 Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine	1972
Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes. The Journal of clinical investigation, 1971, Volume: 50, Issue:11 Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport, Active; Carbon Isotopes; Female; Fibroblasts; Folic Acid; Glycine; Half-Life; In Vitro Techniques; Kidney Tubules; Kinetics; Oxidoreductases; Phenotype; Proline; Rats; Sarcosine; Skin	1971
Implications for clinical implementation of results of metabolic screening for amino acidopathies in the newborn. Archives of disease in childhood, 1971, Volume: 46, Issue:250 Topics: Amino Acid Metabolism, Inborn Errors; Follow-Up Studies; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intellectual Disability; Mass Screening; Methionine; Proline	1971
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography. Archives of disease in childhood, 1971, Volume: 46, Issue:250 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Hyperlipidemias; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylketonurias; Proline; Tyrosine	1971
[Osteogenesis imperfecta. Current status]. Acta paediatrica Belgica, 1971, Volume: 25, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Osteogenesis Imperfecta; Proline	1971
[Familial hyperprolinemia]. Neuropsihijatrija, 1968, Volume: 16, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Hydroxyproline; Male; Proline	1968
Hyperprolinaemia type II. Florida dental journal, 1970, Volume: 2, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Electroencephalography; Female; Humans; Male; Pedigree; Proline	1970
Hyperprolinemia: clinical and biochemical family study. Pediatrics, 1969, Volume: 44, Issue:4 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Brain; Bronchopneumonia; Central Nervous System Diseases; Consanguinity; Deafness; Glycine; Heterozygote; Humans; Hydronephrosis; Hydroxyproline; Infant, Newborn; Male; Nephritis; Pedigree; Proline; Pyelonephritis	1969
[Renal clearance of amino acid in a hyperprolinemic child]. Journal de genetique humaine, 1969, Volume: 17, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Female; Glycine; Humans; Hydroxyproline; Infant; Kidney; Kidney Tubules; Male; Pedigree; Proline	1969
[Type I hyperprolinemia. Study of a familial case]. Helvetica paediatrica acta, 1970, Volume: 25, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Amino Acids; Female; Humans; Infant; Pedigree; Proline	1970
Elevation of aortic proline hydroxylase: a biochemical defect in experimental arteriosclerosis. Science (New York, N.Y.), 1970, May-22, Volume: 168, Issue:3934 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Aorta; Aorta, Abdominal; Aorta, Thoracic; Arteriosclerosis; Epinephrine; Male; Mixed Function Oxygenases; Proline; Thyroxine; Tritium	1970
[Familial hyperprolinemia with nephropathy]. Revista clinica espanola, 1970, Jul-31, Volume: 118, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Athetosis; Child; Child, Preschool; Chorea; Chromatography; Female; Humans; Kidney Diseases; Male; Pedigree; Proline; Spain	1970
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia. The Tohoku journal of experimental medicine, 1970, Volume: 102, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine	1970
[Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy]. Annales de pediatrie, 1970, Feb-02, Volume: 17, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Auditory Cortex; Child, Preschool; Deafness; Electroencephalography; Evoked Potentials; Female; Humans; Infant; Isoleucine; Leucine; Leukocytes; Male; Proline; Retinal Degeneration; Transaminases	1970
Intravenous proline tolerance in a patient with hyperprolinaemia type II and his relatives. Helvetica paediatrica acta, 1970, Volume: 25, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Child; Female; Genetics, Medical; Heterozygote; Homozygote; Humans; Injections, Intravenous; Male; Proline; Pyrroles; Statistics as Topic	1970
Low proline diet in type I hyperprolinaemia. Archives of disease in childhood, 1971, Volume: 46, Issue:245 Topics: Amino Acid Metabolism, Inborn Errors; Bone Diseases; Diet Therapy; Electroencephalography; Glycine; Growth; Humans; Hydroxyproline; Hypocalcemia; Infant; Malabsorption Syndromes; Male; Neurologic Manifestations; Proline; Vesico-Ureteral Reflux	1971
Pure familial hyperprolinemia: isolated inborn error of aminoacid metabolism without other anomalies in a Sicilian family. Pediatrics, 1971, Volume: 48, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Glycine; Heterozygote; Humans; Infant; Male; Pedigree; Proline; Pyrroles	1971
[Familial essential hyperprolinemia]. La Presse medicale, 1971, Apr-24, Volume: 79, Issue:21 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deafness; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Kidney Diseases; Male; Pedigree; Proline; Psychomotor Disorders	1971
Endogenous renal clearance rates of free amino acids in prolinuric and Hartnup patients. The Tohoku journal of experimental medicine, 1967, Volume: 93, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child; Child, Preschool; Hartnup Disease; Humans; Infant; Kidney; Kidney Function Tests; Metabolic Clearance Rate; Proline	1967
Cystathioninuria and renal iminoglycinuria in a pedigree. The New England journal of medicine, 1968, Apr-25, Volume: 278, Issue:17 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Counseling; Female; Glycine; Heterozygote; Humans; Hydroxyproline; Infant; Infant, Newborn; Jaundice; Jews; Male; Metabolic Clearance Rate; Methionine; Middle Aged; Pedigree; Phenotype; Proline; Pyridoxine; Renal Aminoacidurias; Tryptophan	1968
Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis. The American journal of the medical sciences, 1968, Volume: 256, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Deafness; Female; Genes; Humans; Ichthyosis; Kidney Calculi; Male; Nephritis; Polycystic Kidney Diseases; Proline	1968
A prospective community survey for aminoacidaemias. Proceedings of the Royal Society of Medicine, 1968, Volume: 61, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Chromatography; England; Female; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylketonurias; Pregnancy; Proline	1968
Hyperprolinaemia. Archives of disease in childhood, 1968, Volume: 43, Issue:232 Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Humans; Hydroxyproline; Infant; Male; Proline	1968
Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria. Acta paediatrica Scandinavica, 1968, Volume: 57, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Genetic Diseases, Inborn; Humans; Hydroxyproline; Intellectual Disability; Kidney; Proline; Retina; Schizophrenia, Childhood	1968
Iminoglycinuria--a "harmless" inborn error of metabolism? Humangenetik, 1968, Volume: 6, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blindness; Consanguinity; Deafness; Glycine; Humans; Hydroxyproline; Male; Proline; Retina	1968
Dietary reduction of hyperprolinemia. The Journal of laboratory and clinical medicine, 1969, Volume: 73, Issue:5 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Blood Urea Nitrogen; Diet Therapy; Dietary Proteins; Female; Humans; Kidney Failure, Chronic; Proline; Renal Aminoacidurias	1969
Iminoaciduria. The Journal of pediatrics, 1969, Volume: 74, Issue:1 Topics: Albinism; Amino Acid Metabolism, Inborn Errors; Audiometry; Biological Transport; Cell Membrane Permeability; Cystinuria; Electrophoresis; Genes, Recessive; Genetics, Medical; Glycine; Homozygote; Humans; Hydroxyproline; Imines; Intestinal Absorption; Kidney; Pentoses; Phenylacetates; Proline; Renal Tubular Transport, Inborn Errors	1969
[Hyperprolinemia and hydroxyprolinemia]. La Presse medicale, 1969, May-28, Volume: 77, Issue:26 Topics: Amino Acid Metabolism, Inborn Errors; Child; Collagen; Consanguinity; Female; Genes, Recessive; Glycine; Humans; Hydroxyproline; Intellectual Disability; Kidney Diseases; Male; Proline	1969
[Prolinuria]. Saishin igaku. Modern medicine, 1969, Volume: 24, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Thin Layer; Female; Glycine; Humans; Hydroxyproline; Infant; Male; Proline	1969
Familial hyperprolinemia and mental retardation. A second metabolic type. Neurology, 1969, Volume: 19, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Diet Therapy; Humans; Infant; Intellectual Disability; Kidney; Male; Proline	1969
[Hereditary nephropathy and hardness of hearing (with metabolic disorders of amino acids and fats in a family from Switzerland)]. Zeitschrift fur klinische Medizin, 1965, Dec-31, Volume: 158, Issue:7 Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deafness; Dwarfism; Electrophoresis; Female; Glomerulonephritis; Glycine; Hematuria; Humans; Hydroxyproline; Kidney Failure, Chronic; Lipid Metabolism, Inborn Errors; Male; Metrorrhagia; Middle Aged; Proline; Switzerland	1965