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Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 438, doi. 10.1002/jimd.12296
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- Article
Neonatal carnitine concentrations in relation to gestational age and weight.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
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- Article
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.
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- Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839
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The role of the clinician in the multi-omics era: are you ready?
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
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- Article
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
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- Human Molecular Genetics, 2014, v. 23, n. 18, p. 5009, doi. 10.1093/hmg/ddu218
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- Article
Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.
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- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3513, doi. 10.1093/hmg/ddu059
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- Article
Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5249, doi. 10.1093/hmg/ddt382
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- Article
A case of d-bifunctional protein deficiency: Clinical, biochemical and molecular investigations.
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- Pediatrics International, 2011, v. 53, n. 4, p. 583, doi. 10.1111/j.1442-200X.2010.03255.x
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- Article
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
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- Human Mutation, 2011, v. 32, n. 1, p. 59, doi. 10.1002/humu.21388
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- Article
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
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- Human Mutation, 2010, v. 31, n. 1, p. E1058, doi. 10.1002/humu.21153
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- Article
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
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- Human Mutation, 2009, v. 30, n. 1, p. 93, doi. 10.1002/humu.20833
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- Article
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes
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- FEBS Letters, 2008, v. 582, n. 23/24, p. 3359, doi. 10.1016/j.febslet.2008.08.028
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- Article
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
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- Human Mutation, 2007, v. 28, n. 9, p. 904, doi. 10.1002/humu.20535
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- Article
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
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- Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9459
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- Article
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid
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- FEBS Letters, 2006, v. 580, n. 14, p. 3551, doi. 10.1016/j.febslet.2006.05.040
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- Article
Identification and characterization of human cardiolipin synthase
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- FEBS Letters, 2006, v. 580, n. 13, p. 3059, doi. 10.1016/j.febslet.2006.04.054
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- Article
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3565, doi. 10.1093/hmg/ddi384
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- Article
Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.
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- Journal of Cellular Physiology, 2005, v. 204, n. 3, p. 839, doi. 10.1002/jcp.20332
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- Article
Identification of novel mutations in classical galactosemia.
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- Human Mutation, 2005, v. 25, n. 5, p. 502, doi. 10.1002/humu.9330
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- Article
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
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- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2803, doi. 10.1093/hmg/ddh300
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- Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.
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- Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062
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- Article
Clinical implications of mutation analysis in primary hyperoxaluria type 1.
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- Kidney International, 2004, v. 66, n. 2, p. 746, doi. 10.1111/j.1523-1755.2004.00796.x
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- Article
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
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- Human Mutation, 2004, v. 23, n. 6, p. 552, doi. 10.1002/humu.20032
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- Article
Ventricular Fibrillation Without Overt Cardiomyopathy as First Presentation of Organic Cation Transporter 2-Deficiency in Adolescence.
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- Pacing & Clinical Electrophysiology, 2004, v. 27, n. 5, p. 675, doi. 10.1111/j.1540-8159.2004.00507.x
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- Article
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
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- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 115, doi. 10.1038/sj.ejhg.5201090
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- Article
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
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- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2255, doi. 10.1093/hmg/ddg236
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- Article
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome.
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- Human Molecular Genetics, 2002, v. 11, n. 25, p. 3115, doi. 10.1093/hmg/11.25.3115
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- Article
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.
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- Human Mutation, 2001, v. 18, n. 6, p. 499, doi. 10.1002/humu.1227
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- Article
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis.
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- Human Mutation, 2000, v. 16, n. 1, p. 18, doi. 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N
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- Article
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
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- Human Molecular Genetics, 2000, v. 9, n. 8, p. 1195, doi. 10.1093/hmg/9.8.1195
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- Article
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
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- Human Mutation, 2000, v. 15, n. 5, p. 430, doi. 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1
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- Article
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
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- Nature Genetics, 2000, v. 24, n. 2, p. 188, doi. 10.1038/72861
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- Article
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism.
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- Journal of Child Neurology, 1999, v. 14, n. 7, p. 434
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- Article
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
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- Human Mutation, 1999, v. 13, n. 6, p. 487, doi. 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T
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- Article
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
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- Nature Genetics, 1999, v. 22, n. 2, p. 175, doi. 10.1038/9691
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- Article
A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 5, p. 827, doi. 10.1046/j.1523-1747.1999.00574.x
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- Article
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
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- Human Molecular Genetics, 1998, v. 7, n. 5, p. 847, doi. 10.1093/hmg/7.5.847
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- Article
Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy.
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 262, doi. 10.1159/000112171
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- Article