pyridoxine has been researched along with Amino Acid Metabolism Disorders, Inborn in 73 studies
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).
| Excerpt | Relevance | Reference |
|---|---|---|
| " Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
| "The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis." | 4.82 | Clinical aspects of the disorders of GABA metabolism in children. ( Gibson, KM; Pearl, PL, 2004) |
| "Treatment with pyridoxine and/or folic acid may lower plasma homocysteine levels." | 2.68 | Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease. ( Blom, HJ; Boers, GH; Franken, DG; Jakobs, C; Kluft, C; Rauwerda, JA; Stehouwert, CD; Van den Berg, M; Van Kamp, GJ, 1995) |
| "Neonatal seizures, as distinguished from nonconvulsive abnormal movements, are a significant problem in neonatal intensive care units." | 2.37 | Neonatal seizures. ( Bergman, I; Crumrine, P; Painter, MJ, 1986) |
| "Early onset hypotonia, oculogyric crises, and autonomic symptoms such as excessive sweating, nasal congestion and profuse nasal, and oropharyngeal secretions, were common in our patients." | 1.56 | The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China. ( Bao, X; Chen, Y; Wang, J; Wen, Y; Zhang, Q, 2020) |
| "A treatment with Pyridoxine and Pramipexole was prescribed, but never started because she died." | 1.48 | When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase. ( Bramanti, P; Cammaroto, S; Fraggetta, F; Gugliandolo, A; Leonardi, S; Mazzon, E; Morabito, R; Portaro, S; Scionti, D, 2018) |
| "We report a case of recurrent pulmonary thromboembolism in a young woman with familial hyperhomocysteinaemia." | 1.29 | Heterozygosity for homocysteinuria: a detectable and reversible risk factor for pulmonary thromboembolism. ( Aiolfi, S; Confalonieri, M; Gandola, L; Ghio, L; Mauri, F; Parigi, P; Patrini, G; Scartabellati, A, 1995) |
| "Pyridoxine dependency was shown in a child with primary cystathioninuria." | 1.26 | [Various forms of cystathioninuria]. ( Endres, W, 1982) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 59 (80.82) | 18.7374 |
| 1990's | 7 (9.59) | 18.2507 |
| 2000's | 3 (4.11) | 29.6817 |
| 2010's | 2 (2.74) | 24.3611 |
| 2020's | 2 (2.74) | 2.80 |
| Authors | Studies |
|---|---|
| Wen, Y | 1 |
| Wang, J | 1 |
| Zhang, Q | 1 |
| Chen, Y | 1 |
| Bao, X | 1 |
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Portaro, S | 1 |
| Gugliandolo, A | 1 |
| Scionti, D | 1 |
| Cammaroto, S | 1 |
| Morabito, R | 1 |
| Leonardi, S | 1 |
| Fraggetta, F | 1 |
| Bramanti, P | 1 |
| Mazzon, E | 1 |
| Montioli, R | 1 |
| Oppici, E | 1 |
| Cellini, B | 1 |
| Roncador, A | 1 |
| Dindo, M | 1 |
| Voltattorni, CB | 1 |
| KOMROWER, GM | 2 |
| WILSON, V | 1 |
| CLAMP, JR | 1 |
| WESTALL, RG | 1 |
| Pearl, PL | 1 |
| Gibson, KM | 1 |
| Fleury, M | 1 |
| Barbier, R | 1 |
| Ziegler, F | 1 |
| Mohr, M | 1 |
| Caron, O | 1 |
| Dollfus, H | 1 |
| Tranchant, C | 1 |
| Warter, JM | 1 |
| Frimpter, GW | 4 |
| Greenberg, AJ | 1 |
| Hilgartner, M | 1 |
| Fuchs, F | 1 |
| Morrow, G | 1 |
| Westall, R | 1 |
| Goldsmith, LA | 1 |
| Bartlett, K | 1 |
| Coude, FX | 1 |
| Coude, M | 1 |
| Grimber, G | 1 |
| Pelet, A | 1 |
| Charpentier, C | 1 |
| Braunshteĭn, AE | 1 |
| Guarini, L | 1 |
| Pascal, TA | 2 |
| Gaull, GE | 3 |
| Beratis, NG | 2 |
| Endres, W | 2 |
| Cardi, E | 1 |
| Kennaway, NG | 1 |
| Weleber, RG | 1 |
| Buist, NR | 1 |
| Confalonieri, M | 1 |
| Parigi, P | 1 |
| Scartabellati, A | 1 |
| Aiolfi, S | 1 |
| Patrini, G | 1 |
| Ghio, L | 1 |
| Mauri, F | 1 |
| Gandola, L | 1 |
| Van den Berg, M | 1 |
| Boers, GH | 2 |
| Franken, DG | 2 |
| Blom, HJ | 2 |
| Van Kamp, GJ | 1 |
| Jakobs, C | 1 |
| Rauwerda, JA | 1 |
| Kluft, C | 1 |
| Stehouwert, CD | 1 |
| Trijbels, JM | 2 |
| van der Griend, R | 1 |
| Meuwissen, OJ | 1 |
| Bravo Mata, M | 1 |
| Escribano Rey, MD | 1 |
| Alonso Martín, A | 1 |
| Alonso Fernández, JR | 1 |
| Ohro, Y | 1 |
| Wada, Y | 1 |
| Burd, L | 1 |
| Stenehjem, A | 1 |
| Franceschini, LA | 1 |
| Kerbeshian, J | 1 |
| Snyderman, SE | 1 |
| Casey, RE | 1 |
| Zaleski, WA | 1 |
| Philp, M | 1 |
| Mendelson, IS | 1 |
| MacKenzie, SL | 1 |
| Grimm, U | 2 |
| Knapp, A | 3 |
| Schmitz, W | 2 |
| Smetan, M | 2 |
| Schmitz, KW | 2 |
| Reddemann, H | 2 |
| Schulz, M | 2 |
| Schlenzka, K | 2 |
| Rosenberg, LE | 2 |
| Korzon, M | 1 |
| Korzon, T | 1 |
| Hillman, RE | 1 |
| Gillam, BM | 1 |
| Tallan, HH | 1 |
| Hirschhorn, K | 1 |
| Machill, G | 1 |
| Kozlowski, KK | 1 |
| Horwith, M | 1 |
| Tanase, S | 1 |
| Morino, Y | 2 |
| Hestnes, A | 1 |
| Borud, O | 1 |
| Lunde, H | 1 |
| Gjessing, L | 1 |
| Painter, MJ | 1 |
| Bergman, I | 1 |
| Crumrine, P | 1 |
| Kennedy, B | 1 |
| Anderson, K | 1 |
| Acosta, PB | 1 |
| Turner, B | 2 |
| Perry, TL | 2 |
| Hansen, S | 2 |
| Love, DL | 2 |
| Crawford, LE | 1 |
| Tischler, B | 1 |
| Zakim, D | 1 |
| Shaw, KN | 1 |
| Lieberman, E | 1 |
| Koch, R | 1 |
| Donnell, GN | 1 |
| Panizon, F | 1 |
| Binazzi, M | 1 |
| Calandra, P | 1 |
| Monnens, LA | 1 |
| van der Zee, SP | 1 |
| Vrenken, JA | 1 |
| Sengers, RC | 1 |
| Schretlen, ED | 1 |
| Tabolin, VA | 1 |
| Kruglov, BV | 1 |
| Lebedev, VP | 1 |
| Levitina, NO | 1 |
| Fleisher, LD | 1 |
| Bremer, HJ | 1 |
| Laurent, B | 1 |
| Coignet, J | 1 |
| Nair, KR | 1 |
| Virmani, V | 1 |
| Gaull, G | 1 |
| Sturman, JA | 1 |
| Schaffner, F | 1 |
| Kodama, H | 1 |
| Ikegami, T | 1 |
| Hirayama, K | 1 |
| Mizuhara, S | 1 |
| Andelman, RJ | 1 |
| George, WF | 1 |
| Carson, NA | 1 |
| Broyer, M | 1 |
| Berger, R | 1 |
| Ekelund, H | 1 |
| Gamstorp, I | 1 |
| Von Studnitz, W | 2 |
| Scott, CR | 1 |
| Dassell, SW | 1 |
| Clark, SH | 1 |
| Chiang-Teng, C | 1 |
| Swedberg, KR | 1 |
| Lyon, IC | 1 |
| Procopis, PG | 1 |
| Tada, K | 3 |
| Yokoyama, Y | 3 |
| Nakagawa, H | 2 |
| Yoshida, T | 2 |
| Arakawa, T | 1 |
| Hardwick, DF | 1 |
| Israels, S | 1 |
| Finkelstein, JD | 1 |
| Mudd, SH | 1 |
| Irreverre, F | 1 |
| Laster, L | 1 |
| Whelan, DT | 1 |
| Scriver, CR | 1 |
| Kelly, S | 1 |
| Copeland, W | 1 |
| Sato, T | 1 |
| Berlow, S | 1 |
16 reviews available for pyridoxine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
Clinical aspects of the disorders of GABA metabolism in children.
Topics: 4-Aminobutyrate Transaminase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; | 2004 |
Tyrosinemia II: lessons in molecular pathophysiology.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Child; Child, Preschool; E | 1983 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
[Clinical significance of amino acid transformations as affected by pyridoxal phosphate enzymes].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Animals; Arteriosclerosis | 1982 |
[Congenital cystathioninuria. B6-dependent].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Cystathionine; Female; Humans; Pyridoxine; R | 1993 |
[Pyridoxine dependency with seizures].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Diagnosis, Differential; gamma-Aminobutyric Acid; Gluta | 1998 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
[Clinical importance of tryptophan metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Hartnup Disease; Humans; Neoplasms; Pyridoxine; Tryptophan; Tr | 1978 |
Neonatal seizures.
Topics: Adrenoleukodystrophy; Amino Acid Metabolism, Inborn Errors; Ammonia; Anesthetics, Local; Anticonvuls | 1986 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
[Chief clinical syndromes in children with tryptophan metabolism disorders (literature survey)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxy-Lyases; Child; Child, Preschool; Diabetes | 1972 |
Methionine metabolism in man: development and deficiencies.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystathionine; Female; Fetus; Heterozygote; Homocystinu | 1974 |
Vitamin B6-dependency syndromes. New horizons in nutrition.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Anemia, Sideroblastic; Animals; Child; | 1969 |
Inherited aminoacidopathies demonstrating vitamin dependency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Humans; Infant; Pyridoxine; Vitamin B 12; Vitami | 1969 |
Pyridoxine therapy of cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; In Vitro Techniques; M | 1966 |
2 trials available for pyridoxine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arterial Occlusive Diseases; Biomarkers; Blood Pressure | 1995 |
Effect of various regimens of vitamin B6 and folic acid on mild hyperhomocysteinaemia in vascular patients.
Topics: Amino Acid Metabolism, Inborn Errors; Folic Acid; Homocysteine; Humans; Middle Aged; Pyridoxine; Vas | 1994 |
55 other studies available for pyridoxine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; China; Cohort S | 2020 |
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Benzo | 2018 |
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Aromatic-L-Amino-Acid Decarboxylases; Catalysis; CHO | 2013 |
HYDROXYKYNURENINURIA: A CASE OF ABNORMAL TRYPTOPHAN METABOLISM PROBABLY DUE TO A DEFICIENCY OF KYNURENINASE.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Electrophoresis; Humans; Hydrolases; Ky | 1964 |
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Diet, Protein-Restricted; Gyrate Atrophy; Hum | 2007 |
Cystathioninuria: management.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Child; Child, Preschool; C | 1967 |
Citrullinemia. A preliminary case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Chemical Analysis; Citrulline; Diet Therapy; Fe | 1967 |
Hydroxykynureninuria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Female; Growth; Humans; Infant, Newborn; Intellige | 1967 |
Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Animals; Benzoates; Cells, Cultured; Dose-Response Re | 1984 |
Studies with cystathionase-deficient lymphoid cell lines in culture.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cystathionine; Cystathionine gamma-Lyase; Humans; L | 1982 |
[Various forms of cystathioninuria].
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Humans; Infant, Newborn; Infant, Premature, Dis | 1982 |
[Inborn errors of amino acid metabolism treatable with B group vitamins: synoptic aspects].
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Folic Acid; Humans; Nicotinic Acids; Pyridoxine; Thiam | 1980 |
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopsy; Choroid; Female; Glucose Tolerance Test; Hetero | 1980 |
Heterozygosity for homocysteinuria: a detectable and reversible risk factor for pulmonary thromboembolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Heparin; Heterozygote; Homocysteine; Humans; Pu | 1995 |
[Hyperhomocysteinemia as risk factor for premature atherosclerosis].
Topics: Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Homocysteine; Homozygote; Humans; Pyridoxine | 1994 |
A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Autistic Disorder; Diagnosis, Dif | 2000 |
Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria.
Topics: 2-Aminoadipic Acid; Amino Acid Metabolism, Inborn Errors; Amino Acids, Dicarboxylic; Child; Female; | 1978 |
[Tryptophan metabolism and oligophrenia (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Down Syndrome; Epilepsy; Hartnup Disease; Humans; Intellectual | 1978 |
Use of cofactors in inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Female; Folic Acid; Humans; Infant, Newborn; Niacinami | 1979 |
Megavitamin responsive aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Child; Drug Administration Schedule; Folic Acid; Human | 1976 |
Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Cross Reactions; Cystathionine; Cystathionine gamma | 1975 |
[Determination of kynureninase activity in oligophrenic children with hereditary taint, before and after vitamin B6 treatment].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Humans; Hydrolases; Intellectual Dis | 1975 |
Distribution of sulfur in urine of patients with cystathioninuria before and during administration of pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Humans; Male; Pyridoxine; Sulfates; Sulfur | 1976 |
[Vitamin B6 dependency syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Aspartate Aminotransferases; Cystathionine; Homocystinuria; Hu | 1992 |
Cystathioninuria in Down's syndrome.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cystathionine; Down Syndrome; Female; Humans; Pyridoxin | 1989 |
[Inborn disorders in amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Glutathione; Humans; Lysine; Methylenete | 1988 |
Nutrition support of inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Computers; Drug Resistance; Homocystinuria; Humans; Infant; In | 1985 |
Pyridoxine treatment in homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Femal | 1967 |
Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Cys | 1968 |
Cystathioninuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschoo | 1967 |
[Diseases due to enzyme defects in childhood. Nosography and recent progress].
Topics: Amino Acid Metabolism, Inborn Errors; Coenzymes; Diet Therapy; Dietary Proteins; Glucose-6-Phosphata | 1971 |
Tryptophan metabolsim and serum fatty acids in acrodermatitis enteropathica.
Topics: Acrodermatitis; Adolescent; Amino Acid Metabolism, Inborn Errors; Aminohippuric Acids; Arachidonic A | 1974 |
A patient with nonketotic hyperglycinemia: biochemical findings and therapeutic approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Benzoates; Biopsy; Carbon Radioisotopes; Child, P | 1974 |
Primary cystathioninuria. Methionine load tests and response to pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Humans; Methionine; Pyridoxine | 1972 |
[Cystathionuria and defective enzyme regulation].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chr | 1973 |
Newer trends in the genetic and biochemical studies in the etiopathogenesis of aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Base Sequence; Coenzymes; DNA; Enzymes; G | 1973 |
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cy | 1974 |
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, | 1974 |
Chemical pathology of amino acid diseases.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Child; Child | 1968 |
Vitamin dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Coenzymes; Humans; Infant; Maple Syrup Urine Disease; | 1972 |
[Cystathioninuria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Chromosome Aberrations; Chromosom | 1969 |
Apparent response of impaired mental development, minor motor epilepsy and ataxia to pyridoxine.
Topics: Amino Acid Metabolism, Inborn Errors; Ataxia; Child; Child, Preschool; Electroencephalography; Epile | 1969 |
Secondary cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bronchopneumonia; Female; Humans; Infant; Infant, | 1969 |
Cystathioninemia: a benign genetic condition.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Butyrates; Child; Child, Preschool; Congeni | 1970 |
[Modern nutrition problems with special reference to genetic metabolic disorders].
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatograp | 1970 |
Cystathioninuria in a well baby population.
Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Chromatography, Thin Layer; Electrophoresis; H | 1971 |
Vitamin B6 dependent xanthurenic aciduria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aspartate Aminotransferases; Autoanalysis; | 1967 |
Cystathioninuria in two healthy siblings.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Female; Humans; Male; Me | 1968 |
Cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Hydro-Lyases; Pyridoxal Phosphate; Pyrido | 1968 |
Cystathioninuria and renal iminoglycinuria in a pedigree.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chroma | 1968 |
Pyridoxine (B6) dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Humans; Pyridoxal Phosphate; Pyridoxine | 1968 |
A hypothesis on the homocystinuric's response to pyridoxine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Cysteine; Homocystinuria; Hum | 1968 |
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Carbon Isotopes; Child; Child, Pres | 1968 |
[B6-dependent xanthurenic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; Liver; Male; Pyridoxi | 1968 |
Studies in cystathioninemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystinuria; Humans; Intelle | 1966 |