cysteine and Amino Acid Metabolism Disorders, Inborn

cysteine has been researched along with Amino Acid Metabolism Disorders, Inborn in 53 studies

Research

Studies (53)

TimeframeStudies, this research(%)All Research%
pre-199032 (60.38)18.7374
1990's5 (9.43)18.2507
2000's7 (13.21)29.6817
2010's6 (11.32)24.3611
2020's3 (5.66)2.80

Authors

AuthorsStudies
Chen, PJ; DeVita, RJ; Dodatko, T; Houten, SM; Khamrui, S; Lazarus, MB; Leandro, J; Sanchez, R; Secor, C; Suebsuwong, C; Yu, C1
Ostojic, SM1
Stipanuk, MH1
Elsea, SH; Jiang, Y; Mistretta, B; Sun, Q1
Bertini, E; Boenzi, S; Di Giovamberardino, G; Dionisi-Vici, C; Martinelli, D; Pastore, A; Petrillo, S; Piemonte, F; Tozzi, G1
Boneh, A; Ferdinandusse, S; Peters, H; Pitt, J; Ruiter, JP; Wanders, RJ1
Gao, XL; Gu, XF; Han, LS; Hu, YH; Qiu, WJ; Wang, F; Wang, Y; Yang, YL; Ye, J; Zhang, YF1
Ceyhan, S; Clayton, PT; Footitt, EJ; Jakobs, C; Mills, PB; Struys, EA; Waters, PJ1
Chiu, NC; Ho, CS; Huang, JK; Huang, YL; Lin, DS1
Lapatto, R; Leonard, JV; Salmi, H1
Andresen, BS; Campistol, J; Curcoy, A; Gregersen, N; Olsen, RK; Osorio, JH; Ribes, A; Trenchs, V; Vilaseca, MA1
Chiang, SC; Chien, YH; Chou, SP; Huang, A; Huang, YT; Hwu, WL; Tseng, SS1
Iida, M; Kubo, H; Mochizuki, H; Takakura, H; Yanagisawa, T; Yasuhara, T1
Lehnert, W; Sass, JO1
Baris, H; Eichler, FS; Grant, PE; Hanley, CA; Hoda, S; Krishnamoorthy, KS; Lee, MS; Shih, VE; Tan, WH1
Efron, ML; Mechanic, GL; Shih, VE1
Cooper, AJ1
Bannai, S1
Hannestad, U; Mårtensson, J; Sjödahl, R; Sörbo, B1
Brown, GK; Cotton, RG; Danks, DM; Fowler, K; Grimes, A; Hunt, SM; Mercer, JF; Rogers, JG; Scholem, R; Truscott, RM1
Beard, SE; Bemelen, K; Frerman, FE; Goodman, SI1
Olney, JW1
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW1
Kodama, H; Kurashige, T; Okada, T; Sugahara, K; Takechi, T; Wakiguchi, H1
Kanno, H1
Majors, AK; Pyeritz, RE1
Fowler, B; Law, EA1
Bardet, J; Bonnefont, JP; Kamoun, P; Parvy, P; Rabier, D1
Crawhall, JC1
Carton, D; Kint, JA1
Meister, A1
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN1
Bürgi, W; Colombo, JP; Richterich, R1
Frimpter, GW1
Fellman, JH; Fujita, TS; Roth, ES1
Crawhall, JC; Purkiss, P; Stanbury, JB1
Coignet, J; Laurent, B1
Jenner, FA1
Hirayama, K; Ikegami, T; Kodama, H; Mizuhara, S1
Scriver, CR1
Chatagner, F1
Ampola, MG; Bixby, EM; Efron, ML; Meshorer, E1
Chiang-Teng, C; Clark, SH; Dassell, SW; Scott, CR; Swedberg, KR1
Key, BJ; White, RP1
Copeland, W; Kelly, S; Leikhim, E1
Ampola, MG; Bixby, EM; Crawhall, JC; Efron, ML; Parker, R; Sneddon, W; Young, EP1
Crawhall, JC; Lietman, PS; Schneider, JA; Seegmiller, JE1
Komrower, GM; Schwarz, V; Wong, PW1
Copeland, W; Kelly, S1
Schulman, JD; Shih, VE1
Crawhall, JC; Parker, R; Sneddon, W; Young, EP1
Finkelstein, JD; Irreverre, F; Laster, L; Mudd, SH1

Reviews

11 review(s) available for cysteine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide.
    The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1

    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.
    Pediatrics, 2005, Volume: 116, Issue:3

    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.
    Annual review of biochemistry, 1983, Volume: 52

    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.
    Biochimica et biophysica acta, 1984, Sep-03, Volume: 779, Issue:3

    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.
    APMIS. Supplementum, 1993, Volume: 40

    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].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    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.
    Clinical biochemistry, 1985, Volume: 18, Issue:3

    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.
    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
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
    The New England journal of medicine, 1973, Oct-18, Volume: 289, Issue:16

    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.
    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
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids].
    Exposes annuels de biochimie medicale, 1967, Volume: 28

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cysteine; Cystinuria; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Rats

1967

Other Studies

42 other study(ies) available for cysteine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1.
    Open biology, 2022, Volume: 12, Issue:9

    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.
    Annals of nutrition & metabolism, 2020, Volume: 76, Issue:3

    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.
    Bioanalysis, 2018, May-01, Volume: 10, Issue:10

    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).
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1

    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.
    Molecular genetics and metabolism, 2015, Volume: 115, Issue:4

    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].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2009, Volume: 47, Issue:3

    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.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6

    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.
    Pediatric neurology, 2012, Volume: 47, Issue:1

    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.
    Acta paediatrica (Oslo, Norway : 1992), 2012, Volume: 101, Issue:11

    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.
    Molecular genetics and metabolism, 2003, Volume: 78, Issue:4

    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.
    Human mutation, 2004, Volume: 23, Issue:2

    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.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:1

    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).
    Medical hypotheses, 2005, Volume: 65, Issue:2

    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.
    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
3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family.
    Biochemical medicine, 1981, Volume: 26, Issue:1

    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.
    Pediatrics, 1982, Volume: 70, Issue:4

    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.
    Human molecular genetics, 1995, Volume: 4, Issue:2

    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.
    American journal of human genetics, 1993, Volume: 53, Issue:3

    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.
    Archives of biochemistry and biophysics, 1993, Volume: 305, Issue:2

    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.
    Molecular genetics and metabolism, 2000, Volume: 70, Issue:4

    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.
    Journal of mental deficiency research, 1976, Volume: 20, Issue:2

    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.
    Pediatrics, 1976, Volume: 57, Issue:5

    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.
    Clinical chemistry, 1989, Volume: 35, Issue:1

    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.
    Archives internationales de physiologie et de biochimie, 1971, Volume: 79, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Child; Colorimetry; Cysteine; Humans; Hydro-Lyases; Hydroxybutyrates; Keto Acids; Liver; Pyridoxal Phosphate

1971
Cystathioninuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    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.
    Nature, 1966, Aug-20, Volume: 211, Issue:5051

    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.
    Biochimica et biophysica acta, 1972, Sep-19, Volume: 284, Issue:1

    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.
    Biochemical medicine, 1973, Volume: 7, Issue:1

    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].
    Clinica chimica acta; international journal of clinical chemistry, 1973, Jan-24, Volume: 43, Issue:2

    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.
    Psychological medicine, 1973, Volume: 3, Issue:3

    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.
    Clinica chimica acta; international journal of clinical chemistry, 1974, Feb-28, Volume: 51, Issue:1

    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.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

    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.
    The Journal of pediatrics, 1970, Volume: 76, Issue:4

    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.
    Neuropharmacology, 1970, Volume: 9, Issue:4

    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.
    Experientia, 1970, Dec-15, Volume: 26, Issue:12

    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.
    Science (New York, N.Y.), 1968, Apr-26, Volume: 160, Issue:3826

    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.
    The American journal of medicine, 1968, Volume: 44, Issue:3

    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.
    Pediatric research, 1968, Volume: 2, Issue:3

    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.
    Metabolism: clinical and experimental, 1968, Volume: 17, Issue:9

    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.
    The Journal of pediatrics, 1969, Volume: 74, Issue:1

    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.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

    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.
    The Journal of clinical investigation, 1965, Volume: 44, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Cysteine; Humans; Hydro-Lyases; Intellectual Disability; Liver; Methionine; Sulfates; Urine

1965