cystine and Amino Acid Metabolism Disorders, Inborn

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

Research

Studies (53)

Timeframe	Studies, this research(%)	All Research%
pre-1990	48 (90.57)	18.7374
1990's	1 (1.89)	18.2507
2000's	3 (5.66)	29.6817
2010's	1 (1.89)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Besouw, M; Levtchenko, E	1
WEYERS, H	1
BICKEL, H	1
SCHWARZ, W	1
BOEHNCKE, H	1
MACDONALD, WB; MOORE, AE; PERRY, JW	1
TIDDENS, HA	1
SCHLAAK, E; STAVE, U	1
MARINI, A; SERENI, F	1
Mann, GV; Perry, N	1
KIIL, R; ROKKONES, T	1
GIOACCHINI, B; LOMBARDI, R; MEMEO, SA	1
CARSON, NA; GIBSON, JB; NEILL, DW	1
DAVIDSON, DT; STAMBAUGH, R	1
BORLAND, JL; LYNCH, HJ; MCCARTHY, CF; OWEN, EE; TYOR, MP	1
LINNEWEH, F	1
Cornelio, A; Dutra-Filho, CS; Feksa, LR; Wajner, M; Wannmacher, CM; Wyse, AT	1
Gibson, B; Gordon, WC; Leach, MT; Robinson, P	1
Frimpter, GW; Fuchs, F; Greenberg, AJ; Hilgartner, M	1
Carson, NA	1
Efron, ML; Mechanic, GL; Shih, VE	1
Arakawa, T; Hirono, H; Tada, K; Yoshida, T	1
Meister, A	1
Bannai, S	1
Mori, M; Nakao, T; Nakata, F; Oyanagi, K; Tsuchiyama, A; Tsugawa, S; Uetsuji, N	1
Guiter, J; Navratil, H; Rakotomalala, E; Robert, M	1
Cook, JW; Malinow, MR; Orloff, SL; Yin, Q	1
Oshima, RG; Rhead, WJ; Schneider, JA; Thoene, JG	1
Jung, EG; Lutz, P; Paweletz, N; Wiest, LG	1
Schneider, JA	1
Christensen, HN	1
Kozłowska, A; Nowaczewska, I; Radomyska, B	1
Crawford, LE; Hansen, S; Love, DL; Perry, TL; Tischler, B	1
Boisse, J; Moatti, N	1
Frimpter, GW	2
Crawhall, JC; Purkiss, P; Stanbury, JB	1
Teijema, HL; van Gelderen, HH	1
Ozog, LS; Tomskey, GC	1
Perheentupa, J; Simell, O	1
Stuber, A	1
Barkin, E; Levy, HL	1
Miura, R; Oyanagi, K; Yamanouchi, T	1
Antener, I	1
Banerji, NK; Millar, JH	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
Nakagawa, H; Sato, T; Tada, K; Yokoyama, Y; Yoshida, T	1
Scriver, CR; Whelan, DT	1
Dolman, CL; Dunn, HG; Perry, TL	1
Cusworth, DC; Komrower, GM; Lambert, AM; Westall, RG	1
Brenton, DP; Cusworth, DC	1
Gaitonde, MK; Gaull, G	1

Reviews

6 review(s) available for cystine and Amino Acid Metabolism Disorders, Inborn

Article	Year
On the cycles of glutathione metabolism and transport. Current topics in cellular regulation, 1981, Volume: 18 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport; Cystine; gamma-Glutamyltransferase; Glutathione; Glutathione Peroxidase; Glutathione Reductase; Humans; Kinetics; Protein Disulfide Reductase (Glutathione); Tissue Distribution	1981
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
[Urologic management of cystine lithiasis in the upper urinary tract. Modalities and indications]. Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie, 1998, Volume: 8, Issue:1 Topics: Administration, Oral; Alkalies; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Chemical Phenomena; Chemistry, Physical; Cystine; Cystinuria; Disulfides; Follow-Up Studies; Humans; Laser Therapy; Lithotripsy; Perfusion; Recurrence; Risk Factors; Solubility; Therapeutic Irrigation; Urinary Calculi; Urinary Catheterization	1998
Amino acid transport systems of lysosomes: possible substitute utility of a surviving transport system for one congenitally defective or absent. Bioscience reports, 1988, Volume: 8, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport; Cell Membrane; Cystine; Humans; Intracellular Membranes; Lysosomes	1988
[Amino acid transfer systems and their importance in pathology. II. Specific abnormalities in renal and intestinal amino acid transfer]. Annales de biologie clinique, 1973, Volume: 31, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cystine; Female; Glycine; Hartnup Disease; Humans; Infant; Lysine; Malabsorption Syndromes; Male; Methionine; Renal Tubular Transport, Inborn Errors; Tryptophan	1973
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

Other Studies

47 other study(ies) available for cystine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Growth retardation in children with cystinosis. Minerva pediatrica, 2010, Volume: 62, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Cysteamine; Cystine; Forecasting; Growth Disorders; Human Growth Hormone; Humans; Lysosomes; Recombinant Proteins	2010
[New clinical and diagnostic findings of chronic aminoaciduria with cystine storage]. Acta paediatrica, 1952, Volume: 41, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Antifibrinolytic Agents; Body Fluids; Cystine; Humans; Urologic Diseases	1952
Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease. Acta paediatrica, 1953, Volume: 42, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Cystinosis; Dwarfism; Fanconi Syndrome; Metabolic Diseases; Urine	1953
[Cystinosis with aminoaciduria and nanism]. Minerva pediatrica, 1954, Jan-15, Volume: 6, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Body Fluids; Cystine; Cystinosis; Dwarfism; Metabolic Diseases	1954
[Aminoaciduria in cystin thesaurismosis and marble bone disease]. Kinderarztliche Praxis, 1953 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Metabolic Diseases; Osteopetrosis; Osteosclerosis; Urologic Diseases	1953
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria. The Medical journal of Australia, 1954, Nov-20, Volume: 2, Issue:21 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ataxia; Calculi; Cystine; Cystinosis; Muscle Spasticity; Psychomotor Disorders; Urinary Tract; Urine	1954
[Cystinosis without aminoaciduria in a girl nine years of age]. Maandschrift voor kindergeneeskunde, 1955, Volume: 23, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Female; Humans; Urologic Diseases	1955
[Amino acid feeding and tubular damage. I. Aminoaciduria in rabbits after cystine feeding]. Zeitschrift fur Kinderheilkunde, 1956, Volume: 78, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Antifibrinolytic Agents; Body Fluids; Cystine; Rabbits; Urologic Diseases	1956
[Metabolic effects of administration of cystine in puppies. II. Renal function, with special reference to the pathogenesis of hyperaminoaciduria]. Minerva pediatrica, 1957, Mar-17, Volume: 9, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cystine; Dogs; Female; Humans; Kidney; Pharmaceutical Preparations; Phosphorus	1957
AMINOACIDURIA AFTER DIETARY LOADING IN HUMAN SUBJECTS. The American journal of clinical nutrition, 1964, Volume: 14 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystine; Diet; Dietary Proteins; Humans; Kidney; Lysine; Nitrogen; Ornithine; Proteins; Renal Aminoacidurias; Sulfur; Urine	1964
LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE). Acta paediatrica, 1964, Volume: 53 Topics: Amino Acid Metabolism, Inborn Errors; Blood Proteins; Child; Chromatography; Cystine; Histidine; Humans; Infant; Isoleucine; Kidney; Leucine; Maple Syrup Urine Disease; Pathology; Renal Aminoacidurias; Valine	1964
[ON SOME FINDINGS CONCERNING PATHOLOGICAL AMINOACIDURIAS WITH CYSTINE CALCULOSIS]. Giornale di gerontologia, 1964, Volume: 12 Topics: Amino Acid Metabolism, Inborn Errors; Congenital Abnormalities; Cystine; Cystinosis; Cystinuria; Humans; Kidney; Kidney Calculi; Kidney Diseases; Kidney Tubules; Lithiasis; Renal Aminoacidurias	1964
PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA. Journal of clinical pathology, 1964, Volume: 17 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arachnodactyly; Child; Cystine; Fatty Liver; Homocystinuria; Humans; Intellectual Disability; Intracranial Embolism; Intracranial Embolism and Thrombosis; Kidney; Marfan Syndrome; Pathology; Renal Aminoacidurias; Thrombosis; Vascular Diseases	1964
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM. The Journal of pediatrics, 1964, Volume: 65 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatinine; Cystine; Glutamates; Glutamine; Glycine; Humans; Infant; Intellectual Disability; Mass Screening; Renal Aminoacidurias; Threonine	1964
DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA. The Journal of clinical investigation, 1964, Volume: 43 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Basic; Arginine; Carbon Isotopes; Cystine; Cystinuria; Duodenum; Humans; Intestinal Absorption; Intestinal Mucosa; Leucine; Lysine; Mucous Membrane; Ornithine; Phenylalanine	1964
[On chronic aminoaciduria; comparative studies of cystinuria and cystinosis]. Klinische Wochenschrift, 1951, Oct-01, Volume: 29, Issue:37-38 Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Cystinuria; Humans; Urologic Diseases	1951
The effects of the interactions between amino acids on pyruvate kinase activity from the brain cortex of young rats. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2005, Volume: 23, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Binding Sites; Brain Diseases, Metabolic, Inborn; Cerebral Cortex; Cystine; Energy Metabolism; Feedback, Physiological; Nerve Degeneration; Phenylalanine; Pyruvate Kinase; Rats; Rats, Wistar; Serine; Tryptophan	2005
Haemophagocytosis by myeloid precursors in lysinuric protein intolerance. British journal of haematology, 2007, Volume: 138, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Bone Marrow Examination; Child; Cystine; Humans; Lysine; Male; Myeloid Progenitor Cells; Ornithine; Phagocytosis	2007
Cystathioninuria: management. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Child; Child, Preschool; Cystine; Female; Humans; In Vitro Techniques; Intellectual Disability; Liver; Male; Methionine; Middle Aged; Pregnancy; Pyridoxal Phosphate; Pyridoxine; Thrombocytopenia	1967
Homocystinuria. Trial treatment of a 5-year old severely retarded child with a natural diet low in methionine. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Child, Preschool; Cystine; Diet Therapy; Female; Growth; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Methionine; Neurologic Manifestations	1967
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
Homocystinuria: amino acid pattern of the liver. The Tohoku journal of experimental medicine, 1967, Volume: 92, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child, Preschool; Cystine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Liver; Male; Methionine	1967
A new type of hypermethioninemia in neonates. The Tohoku journal of experimental medicine, 1982, Volume: 138, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Female; Humans; Infant, Newborn; Liver; Male; Mass Screening; Methionine; Methionine Adenosyltransferase	1982
Hyperhomocyst(e)inemia induces accelerated transplant vascular sclerosis in syngeneic and allogeneic rat cardiac transplants. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2002, Volume: 2, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Creatinine; Cystine; Graft Rejection; Graft Survival; Heart Transplantation; Homocysteine; Hyperhomocysteinemia; Male; Postoperative Complications; Rats; Rats, Inbred F344; Rats, Inbred Lew; Sclerosis; Time Factors; Transplantation, Heterotopic; Transplantation, Homologous; Transplantation, Isogeneic; Vascular Diseases	2002
Cystine metabolism in human fibroblasts. Comparison of normal, cystinotic, and gamma-glutamylcysteine synethetase-deficient cells. The Journal of biological chemistry, 1976, Jul-25, Volume: 251, Issue:14 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cystine; Cystinosis; Erythrocytes; Fibroblasts; Humans; Kinetics; Peptide Synthases; Skin; Sulfhydryl Reagents	1976
[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)]. Archives for dermatological research = Archiv fur dermatologische Forschung, 1976, Jul-26, Volume: 256, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystine; Hair; Homocystinuria; Humans; Keratins; Phenylketonurias; Tyrosine	1976
Has the basic metabolic defect of cystinosis been discovered? Pediatric nephrology (Berlin, Germany), 1989, Volume: 3, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Cystinosis; Humans; Lysosomes	1989
[Trichothiodystrophy]. Pediatria polska, 1987, Volume: 62, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Cystine; Female; Hair Diseases; Humans; Infant	1987
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet (London, England), 1968, Aug-31, Volume: 2, Issue:7566 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cystine; Diet Therapy; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Intellectual Disability; Male; Methionine; Pyridoxine; Thrombosis	1968
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
Hyperlysinaemia. Harmless inborn error of metabolism? Archives of disease in childhood, 1973, Volume: 48, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Height; Carbon Isotopes; Child; Citrulline; Cystine; Fibroblasts; Humans; Ketone Oxidoreductases; Lysine; Male; Ornithine	1973
Diagnosis and treatment of cystinuria. Urology, 1974, Volume: 3, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Bicarbonates; Biological Transport; Coloring Agents; Crystallization; Cystine; Cystinuria; Diet Therapy; Female; Humans; Kidney Calculi; Middle Aged; Penicillamine; Ureteral Obstruction; Water; X-Ray Diffraction	1974
Defective metabolic clearance of plasma arginine and ornithine in lysinuric protein intolerance. Metabolism: clinical and experimental, 1974, Volume: 23, Issue:8 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Cystine; Cystinuria; Fasting; Female; Humans; Infant; Infusions, Parenteral; Kidney Diseases; Liver Diseases; Lysine; Male; Metabolic Clearance Rate; Ornithine; Proteinuria; Renal Tubular Transport, Inborn Errors; Urea	1974
Screening tests and chromatography for the detection of inborn errors of metabolism. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 36, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Chromatography, Thin Layer; Copper; Cystine; Humans; Indicators and Reagents; Infant; Iron; Mass Screening; Metabolism, Inborn Errors; Naphthols; Renal Aminoacidurias; Toluidines	1972
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders. The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine	1971
Congenital lysinuria: a new inherited transport disorder of dibasic amino acids. The Journal of pediatrics, 1970, Volume: 77, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Child; Chromatography, Thin Layer; Consanguinity; Cystine; Cystinuria; Diarrhea; Female; Growth; Humans; Intellectual Disability; Lysine; Malabsorption Syndromes; Ornithine; Renal Aminoacidurias; Vomiting	1970
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics]. Zeitschrift fur klinische Chemie und klinische Biochemie, 1970, Sep-08, Volume: 7, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias	1970
Paraplegia associated with cystinuria. Journal of the neurological sciences, 1971, Volume: 12, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystine; Cystinuria	1971
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
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria. The Tohoku journal of experimental medicine, 1968, Volume: 95, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Preschool; Chromatography, Thin Layer; Chromosome Aberrations; Chromosome Disorders; Cystine; Electroencephalography; Humans; Infant; Liver; Liver Function Tests; Male; Methionine; Pyridoxine; Riboflavin; Serine; Sulfates	1968
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. Pediatric research, 1968, Volume: 2, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Biological Transport; Cell Membrane Permeability; Child, Preschool; Cystine; Female; Genes, Dominant; Heterozygote; Humans; Intestinal Absorption; Kidney Function Tests; Lysine; Male; Ornithine	1968
Cystathioninuria: nature of the defect. Science (New York, N.Y.), 1965, Sep-03, Volume: 149, Issue:3688 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystine; Humans; Hydro-Lyases; In Vitro Techniques; Liver; Pyridoxal Phosphate; Radiometry; Subcellular Fractions; Tritium; Urine	1965
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis. Neurology, 1966, Volume: 16, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine	1966
Dietary treatment of homocystinuria. Archives of disease in childhood, 1966, Volume: 41, Issue:220 Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Cystine; Diet Therapy; Female; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Methionine	1966
Homocystinuria: metabolism of [35S]methionine. Clinical science, 1966, Volume: 31, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cystine; Female; Homocystine; Homocystinuria; Humans; L-Serine Dehydratase; Male; Methionine; Sulfonic Acids; Sulfur Isotopes	1966
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency. Journal of medical genetics, 1966, Volume: 3, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Cystine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Lens, Crystalline; Male; Methionine; Middle Aged; Sulfur Isotopes	1966