pyridoxine has been researched along with Inborn Errors of Metabolism in 74 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 |
|---|---|---|
| "Pyridoxine-dependent seizures are a recognized, although rare, cause of intractable seizures in neonates." | 8.81 | Pyridoxine-dependent seizures: a case report and a critical review of the literature. ( Gupta, VK; Mathur, I; Mishra, D; Singh, KK, 2001) |
| "Pyridoxine-dependent seizures, although a rare clinical entity, have been recognized as an etiology of intractable seizures in neonates and infants for more than 45 years." | 8.81 | Pyridoxine-dependent seizures: findings from recent studies pose new questions. ( Gospe, SM, 2002) |
| "To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada." | 7.75 | Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. ( Basura, GJ; Gospe, SM; Hagland, SP; Wiltse, AM, 2009) |
| "Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age." | 7.72 | [Pyridoxine-dependent seizures]. ( Akre, B; Lundby, R; Rasmussen, M, 2004) |
| "Tryptophan metabolism was studied in a family in which a sister and brother had bladder cancer." | 7.65 | Abnormal tryptophan metabolism in a family with a history of bladder cancer. ( Brown, RR; Leklem, JE, 1976) |
| " It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine." | 4.95 | Cystathionine β-synthase deficiency: Of mice and men. ( Kruger, WD, 2017) |
| "Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy." | 4.89 | Inborn errors of metabolism causing epilepsy. ( Clayton, PT; Footitt, EJ; Rahman, S; Varadkar, S, 2013) |
| "Pyridoxine-dependent seizures are a recognized, although rare, cause of intractable seizures in neonates." | 4.81 | Pyridoxine-dependent seizures: a case report and a critical review of the literature. ( Gupta, VK; Mathur, I; Mishra, D; Singh, KK, 2001) |
| "Pyridoxine-dependent seizures, although a rare clinical entity, have been recognized as an etiology of intractable seizures in neonates and infants for more than 45 years." | 4.81 | Pyridoxine-dependent seizures: findings from recent studies pose new questions. ( Gospe, SM, 2002) |
| " Studies of patients with three types of homocystinuria have demonstrated unequivocally the major role of cystathionine formation in degradation of homocysteine, and the importance of homocysteine remethylation." | 4.76 | Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness. ( Mudd, SH, 1979) |
| "To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada." | 3.75 | Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. ( Basura, GJ; Gospe, SM; Hagland, SP; Wiltse, AM, 2009) |
| "Elevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine-dependent epilepsy, but its molecular background is unclear." | 3.73 | Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. ( Hoeger, H; Jakobs, C; Leschnik, M; Muehl, A; Plecko, B; Stoeckler-Ipsiroglu, S; Stromberger, C; Struys, E, 2005) |
| "Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age." | 3.72 | [Pyridoxine-dependent seizures]. ( Akre, B; Lundby, R; Rasmussen, M, 2004) |
| "The aim of the study is to screen patients for homocystinuria with and without cataract and analyse for homocystine and methionine." | 3.70 | Homocystinuria with congenital/developmental cataract. ( Amirthalakshmi, S; Ramakrishnan, S; Sulochana, KN; Tamilselvi, R; Vasanthi, SB, 2000) |
| "Tryptophan metabolism was studied in a family in which a sister and brother had bladder cancer." | 3.65 | Abnormal tryptophan metabolism in a family with a history of bladder cancer. ( Brown, RR; Leklem, JE, 1976) |
| "Certain rare vitamin-responsive inborn errors of metabolism may present as early encephalopathy with anticonvulsant-resistant seizures." | 2.49 | [Vitamin-responsive epilepsies: an update]. ( Tabarki, B; Thabet, F, 2013) |
| "However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease." | 2.43 | [Neonatal epilepsy and inborn errors of metabolism]. ( Bahi-Buisson, N; de Lonlay, P; Desguerre, I; Dulac, O; Kaminska, A; Léger, PL; Mention, K; Nabbout, R; Plouin, P; Valayanopoulos, V, 2006) |
| "Vitamin B(6) dependent seizure disorders are an important and treatable cause of childhood epilepsy." | 1.39 | Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. ( Clayton, PT; Footitt, EJ; Heales, SJ; Mills, K; Mills, PB; Neergheen, V; Oppenheim, M, 2013) |
| "Pyridoxine treatment had no clinical effect but led to a fall in CSF L-dopa and 3-methoxytyrosine and a rise in S-adenosylmethionine." | 1.28 | Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. ( Clayton, PT; Hyland, K; Rodeck, C; Surtees, RA, 1992) |
| " The mean biological half-life of 14C-oxalate was 2." | 1.26 | Determination of oxalic acid clearance and plasma concentration by radioisotope infusion. Results in a family with hyperoxaluria. ( Boer, P; Dorhout Mees, EJ; Endeman, HJ; Prenen, JA; Yoe, OH, 1981) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 55 (74.32) | 18.7374 |
| 1990's | 1 (1.35) | 18.2507 |
| 2000's | 13 (17.57) | 29.6817 |
| 2010's | 5 (6.76) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kruger, WD | 1 |
| Tabarki, B | 1 |
| Thabet, F | 1 |
| Mathis, D | 1 |
| Abela, L | 1 |
| Albersen, M | 1 |
| Bürer, C | 1 |
| Crowther, L | 1 |
| Beese, K | 1 |
| Hartmann, H | 1 |
| Bok, LA | 1 |
| Struys, E | 2 |
| Papuc, SM | 1 |
| Rauch, A | 1 |
| Hersberger, M | 1 |
| Verhoeven-Duif, NM | 1 |
| Plecko, B | 2 |
| Basura, GJ | 1 |
| Hagland, SP | 1 |
| Wiltse, AM | 1 |
| Gospe, SM | 3 |
| Pearl, PL | 1 |
| Footitt, EJ | 2 |
| Clayton, PT | 3 |
| Mills, K | 1 |
| Heales, SJ | 1 |
| Neergheen, V | 1 |
| Oppenheim, M | 1 |
| Mills, PB | 1 |
| Rahman, S | 1 |
| Varadkar, S | 1 |
| GREGORATOS, G | 1 |
| VENNES, GJ | 1 |
| MOSER, RH | 1 |
| BECROFT, DM | 1 |
| PHILLIPS, LI | 1 |
| FRENCH, JH | 1 |
| GRUETER, BB | 1 |
| DRUCKMAN, R | 1 |
| O'BRIEN, D | 1 |
| Akre, B | 1 |
| Rasmussen, M | 1 |
| Lundby, R | 1 |
| Hoeger, H | 1 |
| Jakobs, C | 1 |
| Stromberger, C | 1 |
| Leschnik, M | 1 |
| Muehl, A | 1 |
| Stoeckler-Ipsiroglu, S | 1 |
| Bahi-Buisson, N | 1 |
| Mention, K | 1 |
| Léger, PL | 1 |
| Valayanopoulos, V | 1 |
| Nabbout, R | 1 |
| Kaminska, A | 1 |
| Plouin, P | 1 |
| Dulac, O | 1 |
| de Lonlay, P | 1 |
| Desguerre, I | 1 |
| Bhat, M | 1 |
| Haase, C | 1 |
| Lee, PJ | 1 |
| Nicolai, J | 1 |
| van Kranen-Mastenbroek, VH | 1 |
| Wevers, RA | 1 |
| Hurkx, WA | 1 |
| Vles, JS | 1 |
| Price, JM | 2 |
| Yess, N | 2 |
| Brown, RR | 3 |
| Johnson, AM | 1 |
| Bartlett, K | 1 |
| Rudman, D | 1 |
| Williams, PJ | 1 |
| Shideler, CE | 1 |
| de Zegher, FE | 1 |
| Wolff, ED | 1 |
| vd Heijden, AJ | 1 |
| Sukhai, RN | 1 |
| Fleisher, LD | 1 |
| Gaull, GE | 1 |
| O'Regan, PF | 1 |
| Joekes, AM | 1 |
| Malaguzzi Valeri, C | 1 |
| Mudd, SH | 2 |
| Prenen, JA | 1 |
| Boer, P | 1 |
| Dorhout Mees, EJ | 1 |
| Endeman, HJ | 1 |
| Yoe, OH | 1 |
| Kuroda, Y | 1 |
| Naito, E | 1 |
| Ito, M | 1 |
| Sulochana, KN | 1 |
| Amirthalakshmi, S | 1 |
| Vasanthi, SB | 1 |
| Tamilselvi, R | 1 |
| Ramakrishnan, S | 1 |
| Grillo, E | 1 |
| da Silva, RJ | 1 |
| Barbato, JH | 1 |
| Baxter, P | 1 |
| Gupta, VK | 1 |
| Mishra, D | 1 |
| Mathur, I | 1 |
| Singh, KK | 1 |
| Snyderman, SE | 1 |
| Watts, RW | 1 |
| Chalmers, RA | 1 |
| Gibbs, DA | 1 |
| Lawson, AM | 1 |
| Purkiss, P | 1 |
| Spellacy, E | 1 |
| Iinuma, K | 1 |
| Schulman, JD | 1 |
| Ambani, LM | 2 |
| Patel, ZM | 1 |
| Rao, BS | 1 |
| Mehta, BC | 1 |
| Maskati, BT | 1 |
| Spirichev, VB | 1 |
| Sehgal, H | 1 |
| Leklem, JE | 1 |
| Springer, NS | 1 |
| Fricke, NL | 1 |
| Hyland, K | 1 |
| Surtees, RA | 1 |
| Rodeck, C | 1 |
| Cyr, DM | 1 |
| Tremblay, GC | 1 |
| Yendt, ER | 1 |
| Cohanim, M | 1 |
| Beutler, E | 1 |
| Holtzman, NA | 1 |
| Zakim, D | 1 |
| Mirza, AM | 1 |
| Venugopalan, K | 1 |
| Panizon, F | 1 |
| Gamstorp, I | 1 |
| Saxon, A | 1 |
| Busch, GJ | 1 |
| Merrill, JP | 1 |
| Franco, V | 1 |
| Wilson, RE | 1 |
| Morgan, JM | 1 |
| Hartley, MW | 1 |
| Miller, AC | 1 |
| Diethelm, AG | 1 |
| Rosenberg, LE | 1 |
| Frimpter, GW | 1 |
| Yoshida, T | 1 |
| Snodgrass, GJ | 1 |
| Kochen, W | 1 |
| Feist, D | 1 |
| Bourke, E | 1 |
| Frindt, G | 1 |
| Flynn, P | 1 |
| Schreiner, GE | 1 |
| Zacarias, J | 1 |
| Howard, J | 1 |
| Ebadi, MS | 1 |
| Bostad, R | 1 |
| Pellegrino, RJ | 1 |
| Fukuda, H | 1 |
| Solomons, CC | 1 |
| Goodman, SI | 1 |
| Riley, CM | 1 |
| Keuth, U | 1 |
| Hinkel, GK | 1 |
| Kintzel, HW | 1 |
| Grosser, V | 1 |
| Knapp, A | 2 |
| Higashi, O | 1 |
| Baerlocher, K | 1 |
| Pauling, L | 1 |
| Tada, K | 1 |
| Yokoyama, Y | 1 |
| Nakagawa, H | 1 |
| Arakawa, T | 1 |
| Berlow, S | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency[NCT06054347] | 30 participants (Anticipated) | Observational | 2023-11-01 | Not yet recruiting | |||
| SIngle-Stage, Open-Label, Safety and Efficacy Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase by Magnetic Resonance MR-guided Infusion Into Midbrain in Pediatric Patients With AADC Deficiency[NCT02852213] | Phase 1 | 31 participants (Anticipated) | Interventional | 2016-07-31 | Recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
23 reviews available for pyridoxine and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Cystathionine β-synthase deficiency: Of mice and men.
Topics: Animals; Animals, Newborn; Cystathionine beta-Synthase; Disease Models, Animal; Genotype; Homocystei | 2017 |
[Vitamin-responsive epilepsies: an update].
Topics: Avitaminosis; Biopterins; Biotinidase; Enzyme Replacement Therapy; Epilepsy; Folic Acid; Humans; Met | 2013 |
Inborn errors of metabolism causing epilepsy.
Topics: Age Factors; Epilepsy; Humans; Infant; Metabolism, Inborn Errors; Pyridoxine; Ubiquinone | 2013 |
[Neonatal epilepsy and inborn errors of metabolism].
Topics: Age Factors; Anticonvulsants; Biotin; Brain; Electroencephalography; Epilepsies, Myoclonic; Epilepsy | 2006 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
Vitamin B6: an overview.
Topics: Adult; Animals; Chemical Phenomena; Chemistry; Child; Female; Humans; Infant; Metabolism, Inborn Err | 1983 |
Oxalosis in infancy.
Topics: Consanguinity; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Kidney Failure, Chr | 1984 |
Enzyme manipulation by specific megavitamin therapy.
Topics: Amino Acids; Biotin; Coenzymes; Enzymes; Folic Acid; Humans; Metabolism, Inborn Errors; Orthomolecul | 1980 |
[Vitamins in metabolic diseases].
Topics: Biotin; Dose-Response Relationship, Drug; Folic Acid; Humans; Metabolism, Inborn Errors; Niacin; Nic | 1981 |
Vitamin-responsive genetic abnormalities.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Apoenzymes; Cystathionine beta-Synthase; Genetic | 1982 |
[Vitamin dependency syndrome].
Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Disea | 2000 |
Pyridoxine-dependent and pyridoxine-responsive seizures.
Topics: Humans; Infant, Newborn; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Molecular Biology; P | 2001 |
Pyridoxine-dependent seizures: a case report and a critical review of the literature.
Topics: Electroencephalography; Follow-Up Studies; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male | 2001 |
Pyridoxine-dependent seizures: findings from recent studies pose new questions.
Topics: Humans; Metabolism, Inborn Errors; Pyridoxine; Seizures | 2002 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness.
Topics: Adolescent; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Metabolism, Inborn Er | 1979 |
[Hereditary disorders of metabolism and function of vitamins].
Topics: Avitaminosis; Biological Transport, Active; Humans; Metabolism, Inborn Errors; Pyridoxine; Thiamine; | 1975 |
Nutrition and drug therapy for persons with developmental disabilities.
Topics: Anticonvulsants; Antidepressive Agents; Appetite; Dextroamphetamine; Drug-Related Side Effects and A | 1975 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
Biochemical foundations of preventive medicine: the study of abnormal enzymes.
Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Cystathionine gamma-Lyase; Erythrocytes; Genes, | 1974 |
Testing the functional capacity of the tryptophan-niacin pathway in man by analysis of urinary metabolites.
Topics: Adult; Amides; Amines; Chromatography, Ion Exchange; Equipment and Supplies; Female; Hormones; Human | 1965 |
Fate of vitamin B 6 in the I-strain mouse.
Topics: Alcohol Oxidoreductases; Animals; Carboxylic Acids; Intestinal Absorption; Metabolism, Inborn Errors | 1972 |
Vitamin-responsive inherited diseases affecting the nervous system.
Topics: Coenzymes; Genotype; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Molecular Biology; | 1974 |
1 trial available for pyridoxine and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Experimental and clinical studies on the effect of essential fatty acid deficiency on adrenocortical capacity.
Topics: 17-Hydroxycorticosteroids; Adrenal Cortex Hormones; Adrenal Glands; Animals; Clinical Trials as Topi | 1965 |
50 other studies available for pyridoxine and Inborn Errors of Metabolism
| Article | Year |
|---|---|
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Mal | 2016 |
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
Topics: Canada; Humans; Metabolism, Inborn Errors; Pyridoxine; Rare Diseases; Registries; Seizures; United S | 2009 |
Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.
Topics: Aldehyde Dehydrogenase; Epilepsy; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pyridoxal Phos | 2007 |
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Metabolism, Inborn Er | 2013 |
CONGENITAL INCLUSION BODY HEMOLYTIC ANEMIA ASSOCIATED WITH EPILEPSY AND DISORDERED PYRIDOXINE METABOLISM.
Topics: Adolescent; Anemia; Anemia, Hemolytic, Congenital; Bile Pigments; Child; Epilepsy; Erythrocytes; Glu | 1964 |
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
Topics: Anemia; Anemia, Macrocytic; Anemia, Megaloblastic; Bone Marrow Examination; Child; Fluids and Secret | 1965 |
PYRIDOXINE AND INFANTILE MYOCLONIC SEIZURES.
Topics: Amino Acids; Drug Therapy; Electroencephalography; Epilepsies, Myoclonic; Humans; Infant; Kynurenic | 1965 |
[Pyridoxine-dependent seizures].
Topics: Child; Corpus Callosum; Female; Humans; Metabolism, Inborn Errors; Pyridoxine; Radiography; Seizures | 2004 |
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
Topics: Animal Nutritional Physiological Phenomena; Animals; Brain; Disease Models, Animal; Epilepsy; Female | 2005 |
Social outcome in treated individuals with inherited metabolic disorders: UK study.
Topics: Adolescent; Adult; Aged; Child; Employment; Female; Follow-Up Studies; Galactosemias; Homocystinuria | 2005 |
Folinic acid-responsive seizures initially responsive to pyridoxine.
Topics: Epilepsy; Humans; Infant; Infant, Newborn; Leucovorin; Male; Metabolism, Inborn Errors; Pyridoxine; | 2006 |
Tryptophan metabolism. A hitherto unreported abnormality occurring in a family.
Topics: Chlorotrianisene; Electroencephalography; Female; Humans; Injections, Intramuscular; Kynurenine; Mal | 1967 |
Megadose vitamins. Use and misuse.
Topics: Humans; Metabolism, Inborn Errors; Nutritional Requirements; Orthomolecular Therapy; Peripheral Nerv | 1983 |
Primary hyperoxaluria.
Topics: Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Oxalates; Pyrido | 1980 |
Determination of oxalic acid clearance and plasma concentration by radioisotope infusion. Results in a family with hyperoxaluria.
Topics: Adolescent; Carbon Radioisotopes; Child; Female; Half-Life; Humans; Infant; Kidney; Male; Metabolism | 1981 |
Homocystinuria with congenital/developmental cataract.
Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Ma | 2000 |
Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine.
Topics: Age Factors; Body Weight; Coma; Confounding Factors, Epidemiologic; Developmental Disabilities; Drug | 2001 |
Studies on some possible biochemical treatments of primary hyperoxaluria.
Topics: Adolescent; Adult; Animals; Child; Cholestyramine Resin; Female; Haplorhini; Humans; Isocarboxazid; | 1979 |
[Convulsive disorders in inborn errors of metabolism (author's transl)].
Topics: Electroencephalography; Gangliosidoses; Homocystinuria; Humans; Metabolism, Inborn Errors; Phenylket | 1979 |
Approaches to the treatment of inborn errors of sulphur amino acid and peptide metabolism.
Topics: Amino Acids, Sulfur; Ascorbic Acid; Aspirin; Cysteamine; Cystinosis; Dipyridamole; Glutathione; Glut | 1979 |
Homocystinuria--response to pyridoxine therapy.
Topics: Adolescent; Child; Ectopia Lentis; Female; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; | 1979 |
Vitamin responsive inborn errors of metabolism.
Topics: Humans; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Pyridoxine; Vitamin B 12 | 1979 |
Pyridoxine dependant convulsions (a case report).
Topics: Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pyridoxine; Seizures | 1977 |
Abnormal tryptophan metabolism in a family with a history of bladder cancer.
Topics: Aged; Female; Humans; Kynurenine; Male; Metabolism, Inborn Errors; Middle Aged; Pyridoxine; Tryptoph | 1976 |
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Topics: Amniotic Fluid; Aromatic-L-Amino-Acid Decarboxylases; Biogenic Amines; Bromocriptine; Cerebrospinal | 1992 |
On combination therapy with benzoate and piridoxilate.
Topics: Ammonia; Benzoates; Benzoic Acid; Drug Synergism; Humans; Metabolism, Inborn Errors; Pyridoxine | 1989 |
Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.
Topics: Child; Female; Glycolates; Humans; Kidney Calculi; Metabolism, Inborn Errors; Oxalates; Oxalic Acid; | 1985 |
Red cell metabolism. A. Defects not causing hemolytic disease. B. Environmental modification.
Topics: Catalase; Cholinesterases; Clinical Enzyme Tests; Erythrocytes; Flavin-Adenine Dinucleotide; Galacto | 1972 |
Vitamin B 6 dependent convulsions manifest in a case of Down's syndrome.
Topics: Down Syndrome; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pyridoxine; Seizure | 1972 |
[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 |
[Vitamin B6-dependency syndrome].
Topics: Asphyxia Neonatorum; Chromosome Aberrations; Chromosome Disorders; Female; Humans; Infant, Newborn; | 1974 |
Renal transplantation in primary hyperoxaluria.
Topics: Acute Kidney Injury; Adult; Biopsy; Cadaver; Child; Graft Rejection; Humans; Kidney; Kidney Function | 1974 |
Successful renal transplantation in hyperoxaluria.
Topics: Acute Kidney Injury; Adult; Cadaver; Female; Fundus Oculi; Humans; Hydrochlorothiazide; Kidney Calcu | 1974 |
Recurrent urinary tract calculi possibly due to inherited cystathioninuria.
Topics: Adult; Aerospace Medicine; Chronic Disease; Cystathionine; Humans; Male; Metabolism, Inborn Errors; | 1973 |
[Vitamin B 6 dependency].
Topics: Child; Cystathionine; Female; Homocystinuria; Humans; Infant; Male; Metabolism, Inborn Errors; Pyrid | 1973 |
Seizures in newborn infants.
Topics: Birth Injuries; Brain; Calcium; Diazepam; Gluconates; Glucose; Humans; Hypocalcemia; Hypoxia; Infant | 1974 |
[Studies of tryptophan metabolism in pyridoxin-dependent convulsions].
Topics: Child, Preschool; Epilepsy, Tonic-Clonic; Humans; Metabolism, Inborn Errors; Pyridoxine; Tryptophan; | 1971 |
Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.
Topics: Allopurinol; Child; Female; Glycolates; Glyoxylates; Humans; Isocarboxazid; Ketoglutaric Acids; Kidn | 1972 |
Vitamin dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Coenzymes; Humans; Infant; Maple Syrup Urine Disease; | 1972 |
[Convulsions caused by vitamin B-6 dependence in the newborn infant. Review of the subject and report of 2 clinical cases].
Topics: Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Pregn | 1971 |
Impairment of pyridoxal phosphate dependent metabolic reactions in a child with subacute necrotizing encephalopathy.
Topics: 5-Hydroxytryptophan; Amines; Autopsy; Basal Ganglia; Brain Diseases; Carboxy-Lyases; Dopamine; Femal | 1969 |
Calcium carbimide in the treatment of primary hyperoxaluria.
Topics: Child; Cyanates; Diet Therapy; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Metabo | 1967 |
[Seizures in newborn infants].
Topics: Birth Injuries; Cerebral Hemorrhage; Diazepam; Female; Glucose; Humans; Hypernatremia; Hypoglycemia; | 1969 |
[Vitamin-B6-dependent pediatric diseases. Hereditary pyridoxine-dependent spasms in newborns and xanthurenuria in parents].
Topics: Adult; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolism, Inborn Errors; Pregna | 1970 |
[Vitamin B 6 responsive anemia].
Topics: Anemia, Sideroblastic; Humans; Metabolism, Inborn Errors; Pyridoxine | 1970 |
[On the importance of vitamins in congenital metabolic disorders and in the vitamin dependency syndrome].
Topics: Avitaminosis; Humans; Metabolism, Inborn Errors; Pyridoxine; Thiamine; Vitamin B 12 Deficiency; Vita | 1971 |
Orthomolecular psychiatry. Varying the concentrations of substances normally present in the human body may control mental disease.
Topics: Aminobenzoates; Biological Evolution; Blood-Brain Barrier; Brain; Brain Diseases; Culture Media; Die | 1968 |
Vitamin B6 dependent xanthurenic aciduria (the second report).
Topics: Acids; Amino Acids; Aspartate Aminotransferases; Child, Preschool; Erythrocytes; Female; Humans; Hyd | 1968 |
[Recent studies on a genetic disorder of tryptophan metabolism and its relations to vitamin B6].
Topics: Asthma; Eczema; Humans; Kynurenic Acid; Leg Ulcer; Metabolism, Inborn Errors; Pyridoxine; Tryptophan | 1965 |
Studies in cystathioninemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystinuria; Humans; Intelle | 1966 |