cysteine and Inborn Errors of Metabolism

cysteine has been researched along with Inborn Errors of Metabolism in 27 studies

Research

Studies (27)

Timeframe	Studies, this research(%)	All Research%
pre-1990	11 (40.74)	18.7374
1990's	3 (11.11)	18.2507
2000's	8 (29.63)	29.6817
2010's	3 (11.11)	24.3611
2020's	2 (7.41)	2.80

Authors

Authors	Studies
Andrade, J; Neel, BG; Ueberheide, B; Xu, Y	1
Chiasson, MA; DeSloover, D; Fowler, DM; Marks, DS; Matreyek, KA; Rettie, AE; Rollins, NJ; Roth, FP; Sitko, KA; Stephany, JJ; Sun, S; Verby, M	1
Kožich, V; Stabler, S	1
Agaimy, A; Berney, DM; Bonert, M; Brimo, F; Compérat, E; Frizzell, N; Gill, AJ; Hartmann, A; Hes, O; Hills, K; Husain, A; Kristiansen, G; Lüders, C; Maclean, F; Magi-Galluzzi, C; Martinek, P; Mehra, R; Nesi, G; Sibony, M; Srinivasan, B; Trpkov, K	1
Hogan, KJ; Vladutiu, GD	1
Allen, GF; Clayton, PT; Footitt, EJ; Heales, SJ; Mills, PB; Oppenheim, M	1
Crofton, PM; Dean, JC; Hobson, EE; Lloyd, D; Murray, AD; Thomas, S	1
Elpeleg, O; Gutman, A; Korman, SH; Saada, A; Shaag, A; Shalev, SA; Spiegel, R	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Irreverre, F; Laster, L; Mudd, SH	1
Smith, JE	2
Johnson, JL; Rajagopalan, KV	1
Boles, RG; Horwich, AL; Kratz, LE; Ment, LR; Meyn, MS; Rinaldo, P	1
Becker, K; Carlsson, B; Hoffmann, GF; Larsson, A; Mayatepek, E	1
Fukao, T; Kohno, Y; Kondo, N; Luque, C; Naiki, Y; Nakamura, K; Perez-Cerda, C; Song, XQ; Ugarte, M	1
Kaback, HR; Sahin-Tóth, M; Weinglass, AB	1
Paukstadt, W	1
Horinouchi, K; Owada, M; Sakiyama, T; Tsuda, M	1
Meister, A	1
Abroms, IF; Carney, M; Cloherty, JP; Johnson, JL; Mandell, R; Rajagopalan, KV; Robb, RM; Shih, VE	1
Berson, EL	1
Barashnev, IuI; Vel'tishchev, IuE	1
Bonnefont, JP; Charpentier, C; Kamoun, P; Parvy, P; Saudubray, JM; Tardy, P	1
Jenner, FA	1
Konrad, PN; Paglia, DE; Richards, F; Valentine, WN	1
Humbel, R; Kutter, D	1

Reviews

6 review(s) available for cysteine and Inborn Errors of Metabolism

Article	Year
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism. The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1 Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds	2020
Animal models of human erythrocyte metabolic abnormalities. Clinics in haematology, 1981, Volume: 10, Issue:1 Topics: Anemia, Hemolytic, Congenital; Animals; Cats; Cattle; Cysteine; Cytochrome-B(5) Reductase; Disease Models, Animal; Dogs; Erythropoiesis; Glucosephosphate Dehydrogenase Deficiency; Glutamate-Cysteine Ligase; Humans; Metabolism, Inborn Errors; Mice; Porphyrias; Protoporphyrins; Pyruvate Kinase; Sciuridae; Sheep; Spherocytosis, Hereditary; Swine	1981
The kamikaze approach to membrane transport. Nature reviews. Molecular cell biology, 2001, Volume: 2, Issue:8 Topics: Alkylation; Amino Acid Sequence; Bacterial Proteins; Binding Sites; Biological Transport; Carrier Proteins; Cysteine; Escherichia coli; Escherichia coli Proteins; Ethylmaleimide; Humans; Lactose; Long QT Syndrome; Membrane Proteins; Membrane Transport Proteins; Metabolism, Inborn Errors; Models, Molecular; Molecular Sequence Data; Monosaccharide Transport Proteins; Mutagenesis, Site-Directed; Protein Conformation; Protons; Recombinant Fusion Proteins; Structure-Activity Relationship; Sulfhydryl Reagents; Symporters	2001
Function of glutathione in kidney via the gamma-glutamyl cycle. The Medical clinics of North America, 1975, Volume: 59, Issue:3 Topics: Acyltransferases; Adult; Amino Acids; Animals; Cysteine; Dipeptidases; gamma-Glutamylcyclotransferase; gamma-Glutamyltransferase; Glutamates; Glutaminase; Glutamine; Glutathione; Glycine; Humans; Kidney; Male; Metabolism, Inborn Errors; Peptide Synthases; Pyroglutamate Hydrolase; Pyrrolidonecarboxylic Acid; Transaminases	1975
Hereditary and nutritionally induced retinal degenerations: electrophysiologic and biochemical studies. Birth defects original article series, 1976, Volume: 12, Issue:3 Topics: Adolescent; Adult; Animals; Caseins; Child; Cysteine; Electrophysiology; Electroretinography; Humans; Metabolism, Inborn Errors; Methionine; Photoreceptor Cells; Retinal Degeneration; Retinitis Pigmentosa; Taurine	1976
[Early detection of hereditary anomalies of metabolism in children (screening programs)]. Voprosy okhrany materinstva i detstva, 1975, Volume: 20, Issue:8 Topics: Age Factors; Cysteine; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutamate Dehydrogenase; Histidine Ammonia-Lyase; Humans; Hyperlipidemias; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Oxalates; Phenylketonurias; Pyruvate Kinase; Respiratory Distress Syndrome, Newborn; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase	1975

Other Studies

21 other study(ies) available for cysteine and Inborn Errors of Metabolism

Article	Year
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2019, Volume: 33, Issue:11 Topics: Animals; Carrier Proteins; Cells, Cultured; Cysteine; Dimethyl Fumarate; Fumarate Hydratase; Membrane Proteins; Metabolism, Inborn Errors; Muscle Hypotonia; Oxidation-Reduction; Proteins; Proteomics; Psychomotor Disorders; Rats; Sepharose; Thyroid Hormone-Binding Proteins; Thyroid Hormones	2019
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact. eLife, 2020, 09-01, Volume: 9 Topics: Catalytic Domain; Cysteine; Drug Resistance; Genetic Variation; HEK293 Cells; Humans; Metabolism, Inborn Errors; Models, Molecular; Mutation, Missense; Sequence Analysis, DNA; Vitamin K Epoxide Reductases; Warfarin	2020
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. The American journal of surgical pathology, 2016, Volume: 40, Issue:7 Topics: Adult; Aged; Carcinoma, Renal Cell; Cysteine; Female; Fumarate Hydratase; Germ-Line Mutation; Humans; Immunohistochemistry; Kidney Neoplasms; Leiomyomatosis; Male; Metabolism, Inborn Errors; Middle Aged; Muscle Hypotonia; Neoplastic Syndromes, Hereditary; Psychomotor Disorders; Skin Neoplasms; Tissue Array Analysis; Uterine Neoplasms; Young Adult	2016
Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesthesia and analgesia, 2009, Volume: 109, Issue:4 Topics: Amino Acid Substitution; Anesthetics, Inhalation; Arginine; Carnitine O-Palmitoyltransferase; Child, Preschool; Cysteine; Female; Genetic Predisposition to Disease; Halothane; Heterozygote; Humans; Malignant Hyperthermia; Metabolism, Inborn Errors; Mutation; Neuromuscular Depolarizing Agents; Risk Factors; Succinylcholine; Syndrome	2009
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cysteine; Epilepsy; False Positive Reactions; Female; Free Radicals; Humans; Infant; Infant, Newborn; Levodopa; Male; Metabolism, Inborn Errors; Middle Aged; Nervous System Diseases; Oxygen; Pyridoxal Phosphate; Reference Values; Reproducibility of Results; Sulfites; Tetrahydrofolates	2011
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy. European journal of pediatrics, 2005, Volume: 164, Issue:11 Topics: Brain; Brain Diseases, Metabolic, Inborn; Cysteine; Diagnosis, Differential; Fatal Outcome; Female; Humans; Hypoxia-Ischemia, Brain; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Muscle Hypotonia; Seizures; Siblings; Sulfite Oxidase	2005
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:2 Topics: Arginine; Carnitine O-Palmitoyltransferase; Cysteine; Exons; Fatal Outcome; Fatty Acids; Female; Homozygote; Humans; Infant; Metabolism, Inborn Errors; Mitochondria; Mutation, Missense; Oxidation-Reduction; Severity of Illness Index	2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins	2007
Sulfite oxidase deficiency in man: demonstration of the enzymatic defect. Science (New York, N.Y.), 1967, Jun-23, Volume: 156, Issue:3782 Topics: Brain; Cysteine; Cytochromes; Humans; Hydro-Lyases; In Vitro Techniques; Infant; Intellectual Disability; Kidney; Lens, Crystalline; Liver; Male; Metabolism, Inborn Errors; Nervous System Malformations; Oxidoreductases; Sulfates; Sulfites; Thiosulfates; Transferases	1967
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiency. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:1 Topics: Amino Acids; Biomarkers; Chromatography, High Pressure Liquid; Coenzymes; Cysteine; Humans; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Cofactors; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Taurine	1995
Short-term response to dietary therapy in molybdenum cofactor deficiency. Annals of neurology, 1993, Volume: 34, Issue:5 Topics: Acidosis, Lactic; Coenzymes; Cysteine; Developmental Disabilities; Female; Food, Fortified; Humans; Infant; Lactates; Metabolism, Inborn Errors; Metalloproteins; Methionine; Microcephaly; Molybdenum Cofactors; Pteridines	1993
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. International journal of tissue reactions, 1993, Volume: 15, Issue:6 Topics: Cysteine; Female; Glutathione; Glutathione Synthase; Humans; Infant, Newborn; Leukotriene C4; Leukotriene E4; Leukotrienes; Metabolism, Inborn Errors; Monocytes; Neutrophils	1993
A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. Molecular genetics and metabolism, 2001, Volume: 72, Issue:2 Topics: Acetyl-CoA C-Acyltransferase; Binding Sites; Cysteine; DNA Mutational Analysis; Exons; Female; Fibroblasts; Gene Deletion; Humans; Immunoblotting; Introns; Metabolism, Inborn Errors; Mitochondria; Models, Genetic; Mutation; Point Mutation; Reverse Transcriptase Polymerase Chain Reaction; RNA Splice Sites; RNA Splicing; RNA, Messenger; Transfection	2001
[Fungi, psychological aspects, immune system.... Why is the child loosing hair?]. MMW Fortschritte der Medizin, 2001, Sep-27, Volume: 143, Issue:39 Topics: Alopecia; Alopecia Areata; Child; Child, Preschool; Cysteine; Diagnosis, Differential; Female; Glycosuria; Humans; Hypotrichosis; Infant; Male; Menkes Kinky Hair Syndrome; Metabolism, Inborn Errors	2001
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency. Pediatrics international : official journal of the Japan Pediatric Society, 2002, Volume: 44, Issue:3 Topics: Child; Cysteine; DNA Mutational Analysis; Female; Humans; Metabolism, Inborn Errors; Mutation, Missense; Purine-Nucleoside Phosphorylase; Severe Combined Immunodeficiency; Tyrosine	2002
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. The New England journal of medicine, 1977, Nov-10, Volume: 297, Issue:19 Topics: Amino Acids, Sulfur; Child, Preschool; Cysteine; Hemiplegia; Humans; Lens Subluxation; Male; Metabolism, Inborn Errors; Methionine; Oxidoreductases; Sulfites; Sulfur	1977
Attempt at therapy in sulphite oxidase deficiency. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:1 Topics: Cysteine; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; Penicillamine; Sulfites; Taurine	1989
Concentrations of glutathione precursors in erythrocytes of normal and glutathione-deficient sheep. American journal of veterinary research, 1973, Volume: 34, Issue:6 Topics: Adenosine Triphosphate; Animals; Cysteine; Erythrocytes; Glutamates; Glutathione; Glycine; Hematocrit; Metabolism, Inborn Errors; Sheep; Sheep Diseases	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
-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia. The New England journal of medicine, 1972, Mar-16, Volume: 286, Issue:11 Topics: Adult; Anemia, Hemolytic, Congenital Nonspherocytic; Colorimetry; Cysteine; Erythrocyte Count; Erythrocytes; Female; Glutamates; Glutathione; Hemoglobinometry; Humans; Leukocyte Count; Ligases; Male; Metabolism, Inborn Errors; Pedigree	1972
Screening for sulfite oxidase deficiency. Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 24, Issue:2 Topics: Amino Acids; Chromatography, Thin Layer; Cysteine; Drug Stability; Humans; Intellectual Disability; Mass Screening; Metabolism, Inborn Errors; Methods; Oxidoreductases; Sulfites; Thiosulfates	1969