cysteine has been researched along with Amino Acid Metabolism Disorders, Inborn in 53 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 32 (60.38) | 18.7374 |
1990's | 5 (9.43) | 18.2507 |
2000's | 7 (13.21) | 29.6817 |
2010's | 6 (11.32) | 24.3611 |
2020's | 3 (5.66) | 2.80 |
Authors | Studies |
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Chen, PJ; DeVita, RJ; Dodatko, T; Houten, SM; Khamrui, S; Lazarus, MB; Leandro, J; Sanchez, R; Secor, C; Suebsuwong, C; Yu, C | 1 |
Ostojic, SM | 1 |
Stipanuk, MH | 1 |
Elsea, SH; Jiang, Y; Mistretta, B; Sun, Q | 1 |
Bertini, E; Boenzi, S; Di Giovamberardino, G; Dionisi-Vici, C; Martinelli, D; Pastore, A; Petrillo, S; Piemonte, F; Tozzi, G | 1 |
Boneh, A; Ferdinandusse, S; Peters, H; Pitt, J; Ruiter, JP; Wanders, RJ | 1 |
Gao, XL; Gu, XF; Han, LS; Hu, YH; Qiu, WJ; Wang, F; Wang, Y; Yang, YL; Ye, J; Zhang, YF | 1 |
Ceyhan, S; Clayton, PT; Footitt, EJ; Jakobs, C; Mills, PB; Struys, EA; Waters, PJ | 1 |
Chiu, NC; Ho, CS; Huang, JK; Huang, YL; Lin, DS | 1 |
Lapatto, R; Leonard, JV; Salmi, H | 1 |
Andresen, BS; Campistol, J; Curcoy, A; Gregersen, N; Olsen, RK; Osorio, JH; Ribes, A; Trenchs, V; Vilaseca, MA | 1 |
Chiang, SC; Chien, YH; Chou, SP; Huang, A; Huang, YT; Hwu, WL; Tseng, SS | 1 |
Iida, M; Kubo, H; Mochizuki, H; Takakura, H; Yanagisawa, T; Yasuhara, T | 1 |
Lehnert, W; Sass, JO | 1 |
Baris, H; Eichler, FS; Grant, PE; Hanley, CA; Hoda, S; Krishnamoorthy, KS; Lee, MS; Shih, VE; Tan, WH | 1 |
Efron, ML; Mechanic, GL; Shih, VE | 1 |
Cooper, AJ | 1 |
Bannai, S | 1 |
Hannestad, U; Mårtensson, J; Sjödahl, R; Sörbo, B | 1 |
Brown, GK; Cotton, RG; Danks, DM; Fowler, K; Grimes, A; Hunt, SM; Mercer, JF; Rogers, JG; Scholem, R; Truscott, RM | 1 |
Beard, SE; Bemelen, K; Frerman, FE; Goodman, SI | 1 |
Olney, JW | 1 |
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW | 1 |
Kodama, H; Kurashige, T; Okada, T; Sugahara, K; Takechi, T; Wakiguchi, H | 1 |
Kanno, H | 1 |
Majors, AK; Pyeritz, RE | 1 |
Fowler, B; Law, EA | 1 |
Bardet, J; Bonnefont, JP; Kamoun, P; Parvy, P; Rabier, D | 1 |
Crawhall, JC | 1 |
Carton, D; Kint, JA | 1 |
Meister, A | 1 |
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN | 1 |
Bürgi, W; Colombo, JP; Richterich, R | 1 |
Frimpter, GW | 1 |
Fellman, JH; Fujita, TS; Roth, ES | 1 |
Crawhall, JC; Purkiss, P; Stanbury, JB | 1 |
Coignet, J; Laurent, B | 1 |
Jenner, FA | 1 |
Hirayama, K; Ikegami, T; Kodama, H; Mizuhara, S | 1 |
Scriver, CR | 1 |
Chatagner, F | 1 |
Ampola, MG; Bixby, EM; Efron, ML; Meshorer, E | 1 |
Chiang-Teng, C; Clark, SH; Dassell, SW; Scott, CR; Swedberg, KR | 1 |
Key, BJ; White, RP | 1 |
Copeland, W; Kelly, S; Leikhim, E | 1 |
Ampola, MG; Bixby, EM; Crawhall, JC; Efron, ML; Parker, R; Sneddon, W; Young, EP | 1 |
Crawhall, JC; Lietman, PS; Schneider, JA; Seegmiller, JE | 1 |
Komrower, GM; Schwarz, V; Wong, PW | 1 |
Copeland, W; Kelly, S | 1 |
Schulman, JD; Shih, VE | 1 |
Crawhall, JC; Parker, R; Sneddon, W; Young, EP | 1 |
Finkelstein, JD; Irreverre, F; Laster, L; Mudd, SH | 1 |
11 review(s) available for cysteine and Amino Acid Metabolism Disorders, Inborn
Article | Year |
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Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cystathionine beta-Synthase; Cysteine; Glycine N-Methyltransferase; Homocysteine; Humans; Hydrogen Sulfide; Liver; Methionine; S-Adenosylmethionine; Serine; Sulfides; Sulfur; Thiosulfates | 2020 |
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Base Pairing; Brain Diseases, Metabolic, Inborn; Cysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Mutation; Sequence Deletion; Sulfite Oxidase | 2005 |
Biochemistry of sulfur-containing amino acids.
Topics: Adenosine; Amino Acid Metabolism, Inborn Errors; Animals; Cysteine; Deoxyadenosines; Homocysteine; Humans; Methionine; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; S-Adenosylmethionine; Structure-Activity Relationship; Sulfur; Sulfurtransferases; Thionucleosides; Thiosulfate Sulfurtransferase | 1983 |
Transport of cystine and cysteine in mammalian cells.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport; Blood-Brain Barrier; Brain; Cysteine; Cystine; Erythrocytes; Fibroblasts; Humans; Intestinal Mucosa; Kidney; Leukocytes; Liver; Lymphocytes; Lysosomes; Organ Specificity | 1984 |
Role of excitotoxins in developmental neuropathology.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Brain Diseases; Brain Ischemia; Cloning, Molecular; Cysteine; Glutamates; Glycine; Humans; Oxidoreductases Acting on Sulfur Group Donors; Receptors, Glutamate; Receptors, N-Methyl-D-Aspartate | 1993 |
[gamma-Glutamyl cysteine synthetase deficiency].
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Cysteine; Diagnosis, Differential; Female; Glutamate-Cysteine Ligase; Glutathione; Humans; Male | 1998 |
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; Xanthine Oxidase | 1985 |
The gamma-glutamyl cycle. Diseases associated with specific enzyme deficiencies.
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 |
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; Tyrosine | 1973 |
Use of human genetic variation to study membrane transport of amino acids in kidney.
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 |
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cysteine; Cystinuria; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Rats | 1967 |
42 other study(ies) available for cysteine and Amino Acid Metabolism Disorders, Inborn
Article | Year |
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Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; Cysteine; Ethylmaleimide; Glutaryl-CoA Dehydrogenase; Humans; Lysine; Mice; Saccharopine Dehydrogenases | 2022 |
Upregulation of AGAT as a Possible Target in Molecular Nutrition.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Cysteine; Developmental Disabilities; Dietary Supplements; Humans; Intellectual Disability; Nutrition Therapy; Speech Disorders; Up-Regulation | 2020 |
Development of a rapid UPLC-MS/MS determination of urine sulfocysteine for diagnosis of sulfocysteinuria and molybdenum co-factor deficiencies.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Coenzymes; Cysteine; Humans; Limit of Detection; Linear Models; Molybdenum; Sulfite Oxidase; Tandem Mass Spectrometry; Time Factors; Urinalysis | 2018 |
Glutathione metabolism in cobalamin deficiency type C (cblC).
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Case-Control Studies; Child; Child, Preschool; Cysteine; Disease Progression; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Infant; Lymphocytes; Male; Oxidation-Reduction; Oxidative Stress; Oxidoreductases; Oxygen; Reactive Oxygen Species; Vitamin B 12; Vitamin B 12 Deficiency | 2014 |
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Child; Cysteine; Enoyl-CoA Hydratase; Female; Fibroblasts; Glutathione; Humans; Infant; Leigh Disease; Mass Screening; Mutation; Prognosis; Thiolester Hydrolases; Valine | 2015 |
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Cysteine; DNA; DNA Mutational Analysis; Exons; Humans; Hyperhomocysteinemia; Methylmalonic Acid; Mutation | 2009 |
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Humans; Infant, Newborn; L-Aminoadipate-Semialdehyde Dehydrogenase; Lysine; Metabolic Networks and Pathways; Metal Metabolism, Inborn Errors; Metalloproteins; Models, Biological; Molybdenum Cofactors; Molybdoferredoxin; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Sulfite Oxidase; Sulfites | 2012 |
⁹⁹mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cysteine; Female; Follow-Up Studies; Humans; Infant; Magnetic Resonance Imaging; Organotechnetium Compounds; Oxidoreductases Acting on Sulfur Group Donors; Sulfite Oxidase; Tomography, Emission-Computed, Single-Photon | 2012 |
Patients with organic acidaemias have an altered thiol status.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biomarkers; Case-Control Studies; Cells, Cultured; Child; Child, Preschool; Chromatography, High Pressure Liquid; Cysteine; Fibroblasts; Glucosephosphate Dehydrogenase; Glutathione; Glutathione Peroxidase; Glutathione Reductase; Glutathione Transferase; Humans; Infant; Isovaleryl-CoA Dehydrogenase; Oxidative Stress; Propionic Acidemia | 2012 |
Late-onset form of beta-electron transfer flavoprotein deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carnitine; Cysteine; DNA Mutational Analysis; Electron-Transferring Flavoproteins; Electrons; Exons; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Gene Deletion; Glutarates; Humans; Infant, Newborn; Iron-Sulfur Proteins; Lysine; Mutation, Missense; Oxidoreductases Acting on CH-NH Group Donors; Oxygen; Phenotype | 2003 |
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cysteine; DNA Mutational Analysis; Founder Effect; Genetic Testing; Genotype; Humans; Infant, Newborn; Mutation, Missense; Neonatal Screening; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Taiwan | 2004 |
Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Borohydrides; Chromatography, High Pressure Liquid; Cysteine; Dipeptides; Family Health; gamma-Glutamyltransferase; Glutathione; Humans; Japan; Male; Marfan Syndrome; Middle Aged; Siblings; Time Factors | 2005 |
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Cysteine; Glutaryl-CoA Dehydrogenase; Glutathione; Humans; Mice; Mice, Knockout; Models, Chemical; Models, Theoretical; Oxidoreductases Acting on CH-CH Group Donors | 2005 |
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
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 |
3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Cysteine; Erythrocytes; Female; Humans; Lactates; Male; Middle Aged; Pedigree; Pyruvates; Sulfhydryl Compounds; Sulfurtransferases; Thioglycolates | 1981 |
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.
Topics: Abnormalities, Multiple; Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Coenzyme A; Consanguinity; Cysteamine; Cysteine; Enoyl-CoA Hydratase; Humans; Infant; Male; Thiolester Hydrolases; Valine | 1982 |
Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Benzoquinones; Cysteine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Gene Expression Regulation; Glutarates; Humans; Iron-Sulfur Proteins; Molecular Sequence Data; Multienzyme Complexes; Mutation; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Saccharomyces cerevisiae | 1995 |
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors | 1993 |
Identification of new cystathionine mono-oxo acids, S-(3-oxo-3-carboxy-n-propyl) cysteine and S-(2-oxo-2-carboxyethyl) homocysteine, in the urine of a patient with cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Cystathionine; Cysteine; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Keto Acids | 1993 |
A deficiency of cysteine impairs fibrillin-1 deposition: implications for the pathogenesis of cystathionine beta-synthase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cells, Cultured; Cystathionine beta-Synthase; Cysteine; Fibrillin-1; Fibrillins; Immunohistochemistry; Microfilament Proteins; Rabbits | 2000 |
Beta-mercaptolactate cysteine disulphiduria in a mentally retarded Scottish male.
Topics: Abnormalities, Multiple; Adult; Amino Acid Metabolism, Inborn Errors; Cataract; Chromatography, Ion Exchange; Chromatography, Paper; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Cysteine; Disulfides; Genes, Recessive; Humans; Intellectual Disability; Lactates; Male; Scotland; Sulfhydryl Compounds | 1976 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
A new pitfall in plasma amino acid analysis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Anticoagulants; Cysteine; False Positive Reactions; Humans; Sulfites | 1989 |
New evidence for the identity of homoserine deaminase and cystathionase in human liver.
Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Child; Colorimetry; Cysteine; Humans; Hydro-Lyases; Hydroxybutyrates; Keto Acids; Liver; Pyridoxal Phosphate | 1971 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine | 1967 |
L-Lysine dehydrogenase deficiency in a patient with congenital lysine intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Cysteine; Humans; In Vitro Techniques; Liver; Lysine; NAD | 1966 |
Assay, properties and tissue distribution of p-hydroxyphenylpyruvate hydroxylase.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Carbon Isotopes; Chemical Phenomena; Chemistry; Cysteine; Enzyme Activation; Female; Fetus; Haplorhini; Humans; Hydrogen-Ion Concentration; Kidney; Liver; Mixed Function Oxygenases; Opossums; Organ Specificity; Oxygen; Phenols; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Rats; Salmon; Species Specificity; Spectrophotometry, Ultraviolet; Tyrosine | 1972 |
Metabolism of sulfur-containing amino acids in a patient excreting -mercaptolactate-cysteine disulfide.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Cysteine; Cystine; Disulfides; Humans; Intellectual Disability; Lactates; Male; Methionine; Sulfur; Sulfur Isotopes; Taurine; Time Factors | 1973 |
[Cystathionuria and defective enzyme regulation].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Cystathionine; Cysteine; Electrophoresis, Paper; Female; Homocysteine; Homocystine; Homoserine; Humans; Hydro-Lyases; Hydrocortisone; Liver; Lyases; Methionine; Pyridoxine; Sulfur | 1973 |
Medical research council unit for metabolic studies in psychiatry, Sheffield.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Bipolar Disorder; Catatonia; Circadian Rhythm; Cysteine; Humans; Intellectual Disability; Lithium; Mass Spectrometry; Mental Disorders; Metabolism, Inborn Errors; Periodicity; Phenylketonurias; Sleep; Vasopressins | 1973 |
Effect of pyridoxine treatment of a cystathioninuric patient on the urinary excretion of some unusual sulfur-containing amino acids.
Topics: Acetamides; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Autoanalysis; Chromatography, Ion Exchange; Cystathionine; Cysteine; Electrophoresis, Paper; Female; Homocysteine; Homocystine; Humans; Pyridoxine; Time Factors | 1974 |
Mental deficiency and a new aminoaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cysteine; Electrocardiography; Electroencephalography; Eye Abnormalities; Humans; Infections; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Neurologic Examination; Radiography; Seizures; Sulfhydryl Compounds; Sulfides | 1969 |
Cystathioninemia: a benign genetic condition.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Butyrates; Child; Child, Preschool; Congenital Abnormalities; Cysteine; Female; Homozygote; Humans; Intellectual Disability; Keto Acids; Male; Methionine; Pyridoxine | 1970 |
Neuropharmacological comparison of cystathionine, cysteine, homoserine and alpha-ketobutyric acid in cats.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Animals; Behavior, Animal; Blood Pressure; Butyrates; Cats; Cerebral Ventricles; Cysteine; Electroencephalography; Face; Hydroxybutyrates; Ketones; Motor Activity; Muscles; Nervous System; Sleep | 1970 |
Amino acid excretion patterns in the offspring of a 'doubly-heterozygous' cystine stone former.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cysteine; Cystinosis; Cystinuria; Female; Ferrocyanides; Heterozygote; Homocysteine; Humans; Lysine; Molecular Biology; Ornithine | 1970 |
Beta mercaptolactate-cysteine disulfide: analog of cystine in the urine of a mentally retarded patient.
Topics: Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Chromatography, Ion Exchange; Cyanides; Cysteine; Cystine; Electrophoresis; Ferrocyanides; Humans; Indicators and Reagents; Intellectual Disability; Lactates; Middle Aged; Spectrum Analysis; Sulfhydryl Compounds | 1968 |
Cystinosis. Plasma cystine and cysteine concentrations and the effect of D-penicillamine and dietary treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Cysteine; Cystine; Cystinosis; Cystinuria; Diet Therapy; Female; Humans; Infant; Male; Methionine; Nitrogen; Penicillamine; Pyruvates | 1968 |
The biosynthesis of cystathionine in patients with homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromatography, Ion Exchange; Cysteine; Diet Therapy; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Rats; Serine; Sulfur Isotopes | 1968 |
A hypothesis on the homocystinuric's response to pyridoxine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Cysteine; Homocystinuria; Humans; Intellectual Disability; Male; Penicillamine; Pyridoxine | 1968 |
N-acetylcysteine-cysteine disulfide excretion in the urine following N-acetylcysteine administration.
Topics: Acetylcysteine; Amino Acid Metabolism, Inborn Errors; Chromatography; Cysteine; Female; Humans; Infant; Infant, Newborn; Male; Mass Screening; Sulfides | 1969 |
Beta-mercaptolactate-cysteine disulfide in the urine of a mentally retarded patient.
Topics: Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Cysteine; Electrophoresis; Humans; Infrared Rays; Intellectual Disability; Spectrophotometry; Sulfhydryl Compounds; Sulfides | 1969 |
Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Cysteine; Humans; Hydro-Lyases; Intellectual Disability; Liver; Methionine; Sulfates; Urine | 1965 |