Compounds > proline

proline and Deficiency, Mental

proline has been researched along with Deficiency, Mental in 41 studies

Research

Studies (41)

TimeframeStudies, this research(%)All Research%
pre-199027 (65.85)18.7374
1990's3 (7.32)18.2507
2000's7 (17.07)29.6817
2010's3 (7.32)24.3611
2020's1 (2.44)2.80

Authors

AuthorsStudies
Both, GIA; Duineveld, DJ; Fiksinski, AM; Namavar, Y; Verhoeven-Duif, NM; Vorstman, JAS; Zinkstok, JR1
Basel-Vanagaite, L; Dahary, D; Halevy, A; Har-Zahav, A; Haviv, A; Hellman-Aharony, S; Maya, I; Pasmanik-Chor, M; Shohat, M; Smirin-Yosef, P; Straussberg, R; Yeheskel, A1
Al Bughaili, M; Al-Gazali, L; Bahena, P; Byers, P; Callewaert, B; Choudhri, AF; Escande-Beillard, N; Fischer-Zirnsak, B; Ganesh, J; Kornak, U; Krüger, U; Lin, AE; Liu, J; Loh, A; Masri, A; Meierhofer, D; Mostafavi, R; Mundlos, S; Pajunen, L; Pivnick, EK; Rahikkala, E; Reichert, SL; Reversade, B; Robertson, SP; Robinson, PN; Sahai, I; Schwarze, U; Stolte-Dijkstra, I; Symoens, S; Tan, YX; van Ravenswaaij-Arts, C; Villarroel, CE; Wright, GD; Zemojtel, T1
Andres, C; Barthelemy, C; Bendavid, C; Bonnet-Brilhault, F; Briault, S; Campion, D; David, V; Di Rosa, G; Drouin-Garraud, V; Dubourg, C; Faivre, L; Frébourg, T; Germano, E; Goldenberg, A; Guilmatre, A; Henry, C; Impallomeni, C; Joly-Helas, G; Laumonnier, F; Layet, V; Le Vacon, G; Legallic, S; Mosca, AL; Odent, S; Pinoit, JM; Rosier, A; Saugier Veber, P; Tortorella, G1
Beullens, M; Bollen, M; Farooq, A; Gaffney, CJ; Humbert, J; Inayoshi, Y; Landgraf, C; Mazack, V; McDonald, CB; Musi, V; Nicolaescu, E; Oka, T; Pastore, A; Satteson, AC; Schwartz, CE; Sudol, M; Tapia, VE; Volkmer, R1
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D1
ANYON, CP1
EFRON, ML1
Balci, B; Dincer, P; Gross, C; Haliloglu, G; Hehr, U; Kale, G; Talim, B; Topaloğlu, H; Uyanik, G; Willer, T; Winkler, J1
Büsse-Ratzka, M; Collmann, H; Hoppe, F; Krauss, J; Kress, W; Kunz, J; Lieb, G; Pahnke, J; Petersen, B; Reinhart, E; Schäfer, WD; Schropp, C; Sold, J; Sörensen, N; Trusen, A1
Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD1
Afenjar, A; Alembik, Y; Bou, J; Brévière, GM; Bumsel, E; Campion, D; Carlier, M; Coizet, C; Demily, C; Di Rosa, G; Drouin-Garraud, V; Fantini, C; Frebourg, T; Gérard-Desplanches, A; Hannequin, D; Hecketsweiler, B; Heron, D; Lacombe, D; Layet, V; Legallic, S; Lemarchand, M; Manouvrier-Hanu, S; Nolen, MC; Opolczynski, G; Petit, M; Philip, N; Philippe, A; Pustorino, G; Raux, G; Sarda, P; Swillen, A; Thibaut, F; van Amelsvoort, T; Vogels, A; Zinkstok, J1
Curatolo, P; Gagliano, A; Galasso, C; Gloria-Bottini, F; Lalli, C; Refice, F; Rizzo, R; Saccucci, P; Verrotti, A1
Endo, F; Kikuchi, I; Murayama, E; Ogata, A; Tanaka, S; Tomoda, T1
Bosch, A; Estivill, X; Ferrer, I; Fuentes, JJ; Planas, AM; Pritchard, MA1
Baraister, M; Dean, JC; Evans, RD; Hall, CM; Hayward, R; Jones, BM; Malcolm, S; Nevin, NC; Pulleyn, LJ; Reardon, W; Rutland, P; Wilkes, D; Winter, RM1
Chitayat, D; Fransen, E; Holden, JJ; Van Camp, G; Vits, L; Willems, PJ1
Matsumura, R1
Law, EA; Sardharwalla, IB1
Arata, J; Hagiyama, M; Nohara, N; Umemura, S; Yamamoto, Y1
Ben-Zvi, A; Russell, A; Schein, R; Shina, A; Statter, M1
Auricchio, G; Carlomagno, S; Cedrola, G; Cianciaruso, L; Curto, A; Fusco, G; Rinaldi, E; Romano, A; Rosolia, S1
Fleming, GA; Flynn, MP; Martin, MC; Moore, PT; Phang, JM; Stafford, JA1
Hansen, S; Hardwick, DF; Lowry, RB; Perry, TL1
Antener, I; Mollica, F; Pavone, L1
Grygalewicz, J; Iwańska, J; Kowalewska-Kantecka, B; Oknińska, A1
Similä, S1
Fell, V; Pollitt, RJ; Sampson, GA; Wright, T1
Kitagawa, T1
Menne, F1
Emery, FA; Goldie, L; Stern, J1
Hoefnagel, D; Pomeroy, J; Saxon, A; Wurster, D1
Griffiths, MI1
Alpers, DH; Bartoscas, CS; Bixby, EM; Shih, VE; Thier, SO1
Galin, MA; Gitter, KA; Harris, LS; Plechaty, GP1
Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC1
Chapelle, P; Hainaut, H; Hariga, J; Heusden, A; Willems, C1
Durant, JL; Elsas, LJ; Rosenberg, LE1
Loken, AC; Rokkones, T1
Berger, R; Broyer, M1
Selkoe, DJ1

Reviews

5 review(s) available for proline and Deficiency, Mental

ArticleYear
Psychiatric phenotypes associated with hyperprolinemia: A systematic review.
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2021, Volume: 186, Issue:5

    Topics: Case-Control Studies; Humans; Intellectual Disability; Phenotype; Proline; Proline Oxidase

2021
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
    Archives of general psychiatry, 2009, Volume: 66, Issue:9

    Topics: Adolescent; Adult; Autistic Disorder; Case-Control Studies; Chromosome Mapping; Comparative Genomic Hybridization; Female; Gene Dosage; Gene Frequency; Genotype; Humans; In Situ Hybridization, Fluorescence; Intellectual Disability; Male; Neurogenesis; Oligonucleotide Array Sequence Analysis; Proline; Psychotic Disorders; Schizophrenia

2009
[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
[Congenital metabolic inborn errors, with the exception of amino acid metabolism].
    Shinkei kenkyu no shimpo. Advances in neurological sciences, 1968, Volume: 12, Issue:1

    Topics: Amino Acids; Carbohydrate Metabolism, Inborn Errors; Galactose; Humans; Hypercalcemia; Intellectual Disability; Kidney Function Tests; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Proline; Purine-Pyrimidine Metabolism, Inborn Errors; Renal Tubular Transport, Inborn Errors

1968
[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

Other Studies

36 other study(ies) available for proline and Deficiency, Mental

ArticleYear
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.
    Pediatric neurology, 2013, Volume: 49, Issue:6

    Topics: Chromosomes, Human, Pair 8; Computational Biology; Corpus Callosum; DNA Mutational Analysis; Family Health; Female; Histidine; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Mutation; Proline; TATA-Binding Protein Associated Factors; Transcription Factor TFIID

2013
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
    American journal of human genetics, 2015, Sep-03, Volume: 97, Issue:3

    Topics: Amino Acid Sequence; Base Sequence; Corneal Opacity; Cutis Laxa; Genes, Dominant; Humans; Intellectual Disability; Molecular Sequence Data; Mutation, Missense; Ornithine-Oxo-Acid Transaminase; Pedigree; Proline; Sequence Alignment; Sequence Analysis, DNA; Skin; Species Specificity

2015
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
    The Journal of biological chemistry, 2010, Jun-18, Volume: 285, Issue:25

    Topics: Alternative Splicing; Calorimetry; Carrier Proteins; Circular Dichroism; DNA-Binding Proteins; Humans; Intellectual Disability; Ligands; Lymphocytes; Magnetic Resonance Spectroscopy; Mutation; Mutation, Missense; Nuclear Proteins; Proline; Protein Structure, Tertiary; Surface Plasmon Resonance; Transcription, Genetic

2010
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
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
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
    Neuromuscular disorders : NMD, 2005, Volume: 15, Issue:4

    Topics: Adolescent; Adult; Alanine; Alleles; Child; DNA Mutational Analysis; Female; Humans; Intellectual Disability; Male; Mannosyltransferases; Models, Molecular; Muscular Dystrophies, Limb-Girdle; Mutation; Phenotype; Polymorphism, Single Nucleotide; Proline; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger

2005
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.
    European journal of human genetics : EJHG, 2006, Volume: 14, Issue:1

    Topics: Acrocephalosyndactylia; Adolescent; Amino Acid Substitution; Arginine; Child, Preschool; Ear; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Intracranial Pressure; Mutation; Nuclear Proteins; Pedigree; Proline; Receptor, Fibroblast Growth Factor, Type 3; Repetitive Sequences, Nucleic Acid; Syndrome; Synostosis; Twist-Related Protein 1

2006
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
    Georgian medical news, 2005, Issue:128

    Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellectual Disability; Metabolic Syndrome; Methylmalonic Acid; Phenylketonurias; Proline

2005
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
    Human molecular genetics, 2007, Jan-01, Volume: 16, Issue:1

    Topics: Adolescent; Adult; Alleles; Catechol O-Methyltransferase; Chromosome Deletion; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Epilepsy; Female; Genetic Predisposition to Disease; Humans; Intellectual Disability; Male; Methionine; Middle Aged; Phenotype; Proline; Proline Oxidase; Psychotic Disorders; Risk Factors

2007
Association of Trp53 polymorphic variants at codon 72 with nonsyndromic mental retardation.
    Neuroscience research, 2007, Volume: 59, Issue:1

    Topics: Adolescent; Child; Child, Preschool; Codon; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Intellectual Disability; Male; Odds Ratio; Polymorphism, Genetic; Proline; Tumor Suppressor Protein p53

2007
Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.
    Archives of dermatology, 1981, Volume: 117, Issue:11

    Topics: Adult; Dipeptidases; Female; Humans; Intellectual Disability; Leg Ulcer; Male; Pedigree; Proline; Skin

1981
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.
    Human molecular genetics, 1995, Volume: 4, Issue:10

    Topics: Aging; Amino Acid Sequence; Animals; Base Sequence; Brain; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 21; Cloning, Molecular; DNA Primers; DNA-Binding Proteins; Down Syndrome; Exons; Gene Expression; Gene Expression Regulation; Genetic Markers; Heart; Heart Defects, Congenital; Humans; Intellectual Disability; Intracellular Signaling Peptides and Proteins; Molecular Sequence Data; Muscle Proteins; Myocardium; Polymerase Chain Reaction; Proline; Protein Biosynthesis; Proteins; Rats; Restriction Mapping; Sequence Homology, Amino Acid; Signal Transduction; Transcription, Genetic

1995
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Journal of medical genetics, 1997, Volume: 34, Issue:8

    Topics: Acrocephalosyndactylia; Adult; Arginine; Child; Child, Preschool; Craniosynostoses; Female; Fibroblast Growth Factors; Humans; Intellectual Disability; Male; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

1997
Evidence for somatic and germline mosaicism in CRASH syndrome.
    Human mutation, 1998, Volume: Suppl 1

    Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Amino Acid Substitution; Arginine; DNA; DNA Mutational Analysis; Family Health; Female; Genetic Linkage; Germ-Line Mutation; Humans; Hydrocephalus; Intellectual Disability; Leukocyte L1 Antigen Complex; Male; Membrane Glycoproteins; Mosaicism; Mutation; Neural Cell Adhesion Molecules; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Spastic Paraplegia, Hereditary; Thumb; X Chromosome

1998
A new type of heterozygote of familial renal iminoglycinuria.
    Monographs in human genetics, 1978, Volume: 9

    Topics: Female; Genetic Carrier Screening; Glycine; Humans; Hydroxyproline; Intellectual Disability; Male; Mass Screening; Middle Aged; Pedigree; Proline; Renal Aminoacidurias; Scotland

1978
Prolidase deficiency: its dermatological manifestations and some additional biochemical studies.
    Archives of dermatology, 1979, Volume: 115, Issue:1

    Topics: Adolescent; Chromatography, Thin Layer; Dipeptidases; Female; Fibroblasts; Humans; Intellectual Disability; Leg Ulcer; Proline; Pruritus; Recurrence; Skin; Skin Diseases

1979
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 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
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
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
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
[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
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
Hyperprolinaemia type 2.
    Journal of mental deficiency research, 1968, Volume: 12, Issue:3

    Topics: Adolescent; Chromatography, Paper; Electroencephalography; Epilepsy, Absence; Female; Glycine; Humans; Hydroxyproline; Intellectual Disability; Metabolism, Inborn Errors; Proline

1968
Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments.
    Helvetica paediatrica acta, 1971, Volume: 26, Issue:4

    Topics: Athetosis; Child; Cutis Laxa; Cytogenetics; Dwarfism; Growth Disorders; Humans; Intellectual Disability; Ligaments; Male; Proline

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
Studies of intestinal transport defect in Hartnup disease.
    Gastroenterology, 1971, Volume: 61, Issue:4

    Topics: Adolescent; Biological Transport; Carbon Isotopes; Child; Culture Techniques; Feces; Genes, Recessive; Hartnup Disease; Humans; Intellectual Disability; Intestinal Mucosa; Jejunum; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Tryptophan

1971
Oculo-cerebro-renal syndrome. Report of a case in a baby girl.
    The British journal of ophthalmology, 1970, Volume: 54, Issue:4

    Topics: Ammonia; Cataract; Female; Glaucoma; Growth Disorders; Humans; Hydroxyproline; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Proline; Renal Aminoacidurias

1970
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
    Journal of mental deficiency research, 1970, Volume: 14, Issue:1

    Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine

1970
[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
Familial iminoglycinuria. An inborn error of renal tubular transport.
    The New England journal of medicine, 1968, Jun-27, Volume: 278, Issue:26

    Topics: Adult; Child; Chromosome Aberrations; Chromosome Disorders; Deafness; Female; Genotype; Glycine; Heterozygote; Homozygote; Humans; Hydroxyproline; Intellectual Disability; Intestinal Absorption; Kidney Function Tests; Male; Proline; Renal Tubular Transport, Inborn Errors

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
[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
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