Found: 39
Select item for more details and to access through your institution.
Identification of human D lactate dehydrogenase deficiency.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
- By:
- Publication type:
- Article
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1601, doi. 10.1002/ajmg.a.38240
- By:
- Publication type:
- Article
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 873, doi. 10.1007/s10545-015-9841-9
- By:
- Publication type:
- Article
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 353, doi. 10.1007/s10545-013-9657-4
- By:
- Publication type:
- Article
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 923, doi. 10.1007/s10545-012-9580-0
- By:
- Publication type:
- Article
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 961, doi. 10.1007/s10545-012-9568-9
- By:
- Publication type:
- Article
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 967, doi. 10.1007/s10545-013-9590-6
- By:
- Publication type:
- Article
Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach.
- Published in:
- Metabolomics, 2013, v. 9, n. 4, p. 765, doi. 10.1007/s11306-013-0501-5
- By:
- Publication type:
- Article
Polyunsaturated Fatty Acid Concentration Predicts Myelin Integrity in Early-Phase Psychosis.
- Published in:
- Schizophrenia Bulletin, 2013, v. 39, n. 4, p. 830, doi. 10.1093/schbul/sbs089
- By:
- Publication type:
- Article
Polyunsaturated Fatty Acid Concentration Predicts Myelin Integrity in Early-Phase Psychosis.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Genetic basis of hyperlysinemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
- By:
- Publication type:
- Article
Genetic basis of hyperlysinemia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 443, doi. 10.1007/s10545-011-9423-4
- By:
- Publication type:
- Article
Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 3, p. 304, doi. 10.1177/0883073811417184
- By:
- Publication type:
- Article
Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 5, doi. 10.1007/s10545-010-9236-x
- By:
- Publication type:
- Article
Alkyl-Glycerol Rescues Plasmalogen Levels and Pathology of Ether-Phospholipid Deficient Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028539
- By:
- Publication type:
- Article
Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 6, p. 718, doi. 10.1177/0883073810390037
- By:
- Publication type:
- Article
Diagnosis and management of glutaric aciduria type I - revised recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 677, doi. 10.1007/s10545-011-9289-5
- By:
- Publication type:
- Article
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 159, doi. 10.1007/s10545-010-9242-z
- By:
- Publication type:
- Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
- By:
- Publication type:
- Article
Plasma and Erythrocyte Fatty Acid Patterns in Patients with Recurrent Depression: A Matched Case-Control Study.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010635
- By:
- Publication type:
- Article
Effects of Insulin on Ketogenesis Following Fasting in Lean and Obese Men.
- Published in:
- Obesity (19307381), 2009, v. 17, n. 7, p. 1326, doi. 10.1038/oby.2008.678
- By:
- Publication type:
- Article
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes
- Published in:
- FEBS Letters, 2008, v. 582, n. 23/24, p. 3359, doi. 10.1016/j.febslet.2008.08.028
- By:
- Publication type:
- Article
Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
- Published in:
- JAMA: Journal of the American Medical Association, 2006, v. 296, n. 8, p. 943, doi. 10.1001/jama.296.8.943
- By:
- Publication type:
- Article
Clinical and biochemical spectrum of D‐bifunctional protein deficiency.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 1, p. 92, doi. 10.1002/ana.20702
- By:
- Publication type:
- Article
β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.
- Published in:
- 2006
- By:
- Publication type:
- Letter
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 947, doi. 10.1038/sj.ejhg.5201428
- By:
- Publication type:
- Article
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
- Published in:
- 2004
- By:
- Publication type:
- Directory
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2255, doi. 10.1093/hmg/ddg236
- By:
- Publication type:
- Article
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- case study
Prenatal diagnosis in adenylosuccinate lyase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 175, doi. 10.1038/9691
- By:
- Publication type:
- Article
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
- Published in:
- 1998
- By:
- Publication type:
- journal article
3-, 6- and 7-Hydroxyoctanoic Acids are Metabolites of Medium-Chain Triglycerides and Excreted in Urine as Glucuronides.
- Published in:
- Journal of Mass Spectrometry, 1996, v. 31, n. 6, p. 633, doi. 10.1002/(SICI)1096-9888(199606)31:6<633::AID-JMS332>3.0.CO;2-L
- By:
- Publication type:
- Article
D-2-Hydroxyglutaric Aciduria.
- Published in:
- Journal of Child Neurology, 1995, v. 10, n. 2, p. 137, doi. 10.1177/088307389501000216
- By:
- Publication type:
- Article
L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease.
- Published in:
- Annals of Neurology, 1992, v. 32, n. 1, p. 66, doi. 10.1002/ana.410320111
- By:
- Publication type:
- Article
Functional and mechanistic studies on the toxicity of deoxyguanosine for the in vitro proliferation and differentiation of human peripheral blood B lymphocytes.
- Published in:
- European Journal of Immunology, 1986, v. 16, n. 4, p. 381, doi. 10.1002/eji.1830160412
- By:
- Publication type:
- Article