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Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
- Published in:
- 2009
- By:
- Publication type:
- Report
Hyperammonaemia as a cause of psychosis in an adolescent.
- Published in:
- 2003
- By:
- Publication type:
- journal 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
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
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- Publication type:
- Article
Expression of an Aspergillus niger Glucose Oxidase in Saccharomyces cerevisiaeand Its Use to Optimize Fructo-oligosaccharides Synthesis.
- Published in:
- Biotechnology Progress, 2006, v. 22, n. 4, p. 1096, doi. 10.1021/bp060076k
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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
New splicing mutations in propionic acidemia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 992, doi. 10.1007/s10038-006-0068-3
- By:
- Publication type:
- Article
Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128506
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- Publication type:
- Article
Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122966
- By:
- 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
- By:
- Publication type:
- Letter
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
- Published in:
- Human Genetics, 2004, v. 115, n. 3, p. 239, doi. 10.1007/s00439-004-1147-1
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- Publication type:
- Article
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.
- Published in:
- Human Genetics, 2000, v. 106, n. 6, p. 654, doi. 10.1007/s004390000307
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- Publication type:
- Article
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2933, doi. 10.3390/jcm11102933
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- Publication type:
- Article
THE OFFSPRING OF A PHENYLKETONURIC COUPLE.
- Published in:
- Journal of Intellectual Disability Research, 1980, v. 24, n. 2, p. 119, doi. 10.1111/j.1365-2788.1980.tb00065.x
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- Publication type:
- Article
FREE AMINO ACIDS IN THE TISSUES OF RATS WITH EXPERIMENTALLY INDUCED PHENYLKETONURIA.
- Published in:
- Journal of Intellectual Disability Research, 1977, v. 21, n. 2, p. 95, doi. 10.1111/j.1365-2788.1977.tb00029.x
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- Publication type:
- Article
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 528, doi. 10.1038/ejhg.2013.175
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- Publication type:
- Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
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- Publication type:
- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
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- Publication type:
- Article
Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 298, doi. 10.1111/j.1469-1809.2009.00518.x
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- Publication type:
- Article
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
- Published in:
- Journal of Cellular Biochemistry, 2013, v. 114, n. 1, p. 183, doi. 10.1002/jcb.24316
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- Publication type:
- Article
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
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- Publication type:
- Article
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
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- Publication type:
- Article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
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- Publication type:
- Article
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 731, doi. 10.1007/s10545-012-9545-3
- By:
- Publication type:
- Article
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 535, doi. 10.1007/s10545-012-9525-7
- By:
- Publication type:
- Article
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 929, doi. 10.1007/s10545-011-9328-2
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- Publication type:
- Article
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 191, doi. 10.1007/s10545-010-9077-7
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- Publication type:
- Article
Present and future of antisense therapy for splicing modulation in inherited metabolic disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 397, doi. 10.1007/s10545-010-9135-1
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- Publication type:
- Article
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
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
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
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150357
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- Publication type:
- Article
3-Methylgiutaconic Aciduria Type 4 Manifesting as Leigh Syndrome in 2 Siblings.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 2, p. 218
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- Publication type:
- Article
Biotin Transport in Primary Culture of Astrocytes: Effect of Biotin Deficiency.
- Published in:
- Journal of Neurochemistry, 1992, v. 58, n. 4, p. 1460, doi. 10.1111/j.1471-4159.1992.tb11364.x
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- Publication type:
- Article
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1430, doi. 10.1002/humu.24431
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- Publication type:
- Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026
- By:
- Publication type:
- Article
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 678, doi. 10.1002/humu.23208
- By:
- Publication type:
- Article
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
- Published in:
- Human Mutation, 2017, v. 38, n. 2, p. 160, doi. 10.1002/humu.23138
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- Publication type:
- Article
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
- Published in:
- Human Mutation, 2015, v. 36, n. 9, p. 851, doi. 10.1002/humu.22817
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- Publication type:
- Article
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1019, doi. 10.1002/humu.21529
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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
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
- By:
- Publication type:
- Article
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 795, doi. 10.1002/humu.20960
- By:
- Publication type:
- Article
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E520, doi. 10.1002/humu.20966
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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
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
- Published in:
- Human Mutation, 2004, v. 24, n. 5, p. 388, doi. 10.1002/humu.20097
- By:
- Publication type:
- Article