proline and Inborn Errors of Metabolism

proline has been researched along with Inborn Errors of Metabolism in 21 studies

Research

Studies (21)

Timeframe	Studies, this research(%)	All Research%
pre-1990	13 (61.90)	18.7374
1990's	2 (9.52)	18.2507
2000's	4 (19.05)	29.6817
2010's	2 (9.52)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Crabtree, GW; Gogos, JA	1
Mills, GA; Walker, V	1
Baumer, A; Baumgartner, M; Bozorgmehr, B; Giunta, C; Häberle, J; Hausser, I; Kariminejad, A; Kariminejad, MH; Kretz, R; Rohrbach, M	1
Hoshikawa, S; Ito, S; Kaise, N; Mori, K; Nakagawa, Y; Yoshida, K	1
D'Souza, A; Kurien, BT; Matsumoto, H; Miller, D; Patel, NC; Porter, AC; Scofield, RH; Wang, H	1
Brandt, NJ; Christensen, E; Pedersen, PS	1
Freisinger, P; Hässler, A; Pontz, BF; Staudt, M; Wermuth, B	1
Takahashi, T; Takeda, H	1
Abeling, NG; Duran, M; Engelke, UF; Mandel, H; Moolenaar, SH; Wevers, RA	1
Constantopoulos, A; Najjar, VA	1
Buist, NR	1
Erbe, RW; Krane, SM; Pinnell, SR	1
Church, RL; Lapiere, CM; Tanzer, ML	1
Baumann, H; Kluge, G; Lubs, H; Machill, G	1
Cann, HM; Fukanaga, K; Goldstein, AS; Hoogenraad, NJ; Johnson, JD; Sunshine, P; Swierczewski, E	1
Maniscalco, RM; Powell, GF; Rasco, MA	1
Kitagawa, T	1
Emery, FA; Goldie, L; Stern, J	1
Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O	1
Manis, J	1
Similä, S; Visakorpi, JK	1

Reviews

3 review(s) available for proline and Inborn Errors of Metabolism

Article	Year
Prolidase deficiency and the biochemical assays used in its diagnosis. Analytical biochemistry, 2006, Feb-15, Volume: 349, Issue:2 Topics: Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Clinical Laboratory Techniques; Dipeptidases; Dipeptides; Electrophoresis, Capillary; Heterozygote; Homozygote; Humans; Metabolism, Inborn Errors; Proline; Spectrometry, Fluorescence; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Spectrophotometry, Ultraviolet	2006
[Dipeptidase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Biomarkers; Carnosine; Dipeptidases; Dipeptides; Humans; Metabolism, Inborn Errors; Mutation; Prognosis; Proline	1998
[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

Other Studies

18 other study(ies) available for proline and Inborn Errors of Metabolism

Article	Year
Role of Endogenous Metabolite Alterations in Neuropsychiatric Disease. ACS chemical neuroscience, 2018, 09-19, Volume: 9, Issue:9 Topics: DiGeorge Syndrome; gamma-Aminobutyric Acid; Humans; Metabolism, Inborn Errors; Metabolomics; Molecular Mimicry; Neuronal Plasticity; Neurotransmitter Agents; Proline; Proline Oxidase; Schizophrenia; Schizophrenic Psychology	2018
N-(pyrrole-2-carboxyl) glycine a diagnostic marker of hyperprolinaemia type II: mass spectra of trimethylsilyl derivatives. Clinica chimica acta; international journal of clinical chemistry, 2009, Volume: 405, Issue:1-2 Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Biomarkers; Child; Glycine; Humans; Hydroxyproline; Mass Spectrometry; Metabolism, Inborn Errors; Proline; Pyrroles; Trimethylsilyl Compounds	2009
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:3 Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Collagen; delta-1-Pyrroline-5-Carboxylate Reductase; DNA Mutational Analysis; Elastin; Family; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Middle Aged; Models, Biological; Mutation, Missense; Phenotype; Proline; Pyrroles; Pyrroline Carboxylate Reductases; Young Adult	2011
Artifactually elevated serum-free thyroxine levels measured by equilibrium dialysis in a pregnant woman with familial dysalbuminemic hyperthyroxinemia. Thyroid : official journal of the American Thyroid Association, 2004, Volume: 14, Issue:2 Topics: Adult; Amino Acid Substitution; Arginine; Artifacts; Cytosine; Dialysis; Female; Genes, Dominant; Guanine; Hemofiltration; Humans; Hyperthyroxinemia; Metabolism, Inborn Errors; Mutation; Pregnancy; Pregnancy Complications; Proline; Radioimmunoassay; Serum Albumin; Thyroxine; Thyroxine-Binding Proteins	2004
Prolidase deficiency. Acta paediatrica Scandinavica, 1983, Volume: 72, Issue:5 Topics: Ascorbic Acid; Child, Preschool; Collagen; Dipeptidases; Dipeptides; Female; Humans; Manganese; Metabolism, Inborn Errors; Proline; Skin	1983
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:1 Topics: Child, Preschool; Female; Histidine; Humans; Liver; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; Proline	1998
Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:8 Topics: Dipeptidases; Dipeptides; Humans; Hydrogen; Magnetic Resonance Spectroscopy; Metabolism, Inborn Errors; Proline; Urine	2001
A new phagocytosis-stimulating tetrapeptide hormone, tuftsin, and its role in disease. Journal of the Reticuloendothelial Society, 1972, Volume: 12, Issue:2 Topics: Adolescent; Animals; Arginine; Child, Preschool; Complement System Proteins; Dogs; Female; gamma-Globulins; Guinea Pigs; Humans; Immunoglobulin Fragments; Infant, Newborn; Leukocytes; Lysine; Male; Metabolism, Inborn Errors; Oligopeptides; Phagocytosis; Proline; Splenectomy; Splenic Diseases; Staphylococcal Infections; Staphylococcus; Streptococcal Infections; Threonine; Trypsin	1972
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
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:10 Topics: Adolescent; Adult; Amino Acids; Cells, Cultured; Child; Collagen; Consanguinity; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Hydroxylysine; L-Lactate Dehydrogenase; Lysine; Male; Metabolism, Inborn Errors; Methyltransferases; Mixed Function Oxygenases; Procollagen-Proline Dioxygenase; Proline; Protein Precursors; Serine; Skin; Time Factors	1972
Identification of two distinct species of procollagen synthesized by a clonal line of calf dermatosparactic cells. Nature: New biology, 1973, Aug-08, Volume: 244, Issue:136 Topics: Animals; Cattle; Cattle Diseases; Chromatography, DEAE-Cellulose; Clone Cells; Collagen; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Hydroxyproline; Metabolism, Inborn Errors; Microbial Collagenase; Peptides; Proline; Protein Precursors; Skin Diseases; Tritium	1973
[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
Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency. Pediatric research, 1974, Volume: 8, Issue:1 Topics: Ammonia; Ammonium Chloride; Brain; Citrates; Dietary Proteins; Estradiol; Glucose; Heterozygote; Humans; Infant, Newborn; Intestines; Liver; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Orotic Acid; Pedigree; Peritoneal Dialysis; Phenobarbital; Proline; Seizures; Sex Factors	1974
A prolidase deficiency in man with iminopeptiduria. Metabolism: clinical and experimental, 1974, Volume: 23, Issue:6 Topics: Biological Assay; Child; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Dansyl Compounds; Diagnosis, Differential; Dipeptidases; Erythrocytes; Humans; Lathyrism; Leukocytes; Male; Metabolism, Inborn Errors; Peptides; Proline; Proteinuria; Renal Aminoacidurias; Syndrome; Time Factors	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
[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
Intestinal iron-transport defect in the mouse with sex-linked anemia. The American journal of physiology, 1971, Volume: 220, Issue:1 Topics: Anemia; Animals; Biological Transport, Active; Calcium; Diet; Duodenum; Female; Galactose; Genes, Recessive; In Vitro Techniques; Intestine, Small; Iron; Iron Isotopes; Male; Metabolism, Inborn Errors; Mice; Pregnancy; Proline; Sex Chromosomes	1971
Hyperprolinemia without renal disease. Acta paediatrica Scandinavica, 1967 Topics: Humans; Infant; Male; Metabolism, Inborn Errors; Proline	1967