Found: 23
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 183, doi. 10.1007/s10048-011-0279-4
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- Publication type:
- Article
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/1370293
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- Publication type:
- Article
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 18, p. 3680, doi. 10.1093/hmg/ddt217
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
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- Publication type:
- journal article
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1007, doi. 10.1007/s10545-015-9830-z
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- Publication type:
- Article
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
- Published in:
- 2009
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- Publication type:
- Report
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9116-4
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- Publication type:
- Article
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 1, doi. 10.1007/s10545-009-9004-y
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- Publication type:
- Article
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C ( cblC) with homocystinuria (MMACHC).
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107
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- Publication type:
- Article
Mutational spectrum of maple syrup urine disease in Spain.
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9428
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- Publication type:
- Article
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9416
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- Publication type:
- Article
Long‐term follow‐up with filter paper samples in patients with propionic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 44, doi. 10.1002/jmd2.12166
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- Publication type:
- Article
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135
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- Publication type:
- Article
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
- Published in:
- 2010
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- Publication type:
- Letter
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 470, doi. 10.1002/humu.22513
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- Publication type:
- Article
A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 355, doi. 10.1002/humu.22242
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- Publication type:
- Article
Defining the pathogenicity of creatine deficiency syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 282, doi. 10.1002/humu.21421
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- Publication type:
- Article
Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1033, doi. 10.1002/humu.21307
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- Publication type:
- Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
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- Publication type:
- Article
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 2, p. 239, doi. 10.1111/epi.12083
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- Publication type:
- Article
Epilepsy spectrum in cerebral creatine transporter deficiency.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 383, doi. 10.1002/mgg3.88
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- Publication type:
- Article