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Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.
- Published in:
- Cerebellum, 2007, v. 6, n. 2, p. 118, doi. 10.1080/14734220601021700
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- Publication type:
- Article
Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation.
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- Clinical Chemistry & Laboratory Medicine, 2000, v. 38, n. 10, p. 965
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- Publication type:
- Article
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.
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- Proteomics, 2008, v. 8, n. 18, p. 3822, doi. 10.1002/pmic.200700496
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- Publication type:
- Article
Reply to He et al.
- Published in:
- 2011
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- Publication type:
- Letter
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
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- Publication type:
- Article
Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene.
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- NeuroMolecular Medicine, 2007, v. 9, n. 4, p. 285, doi. 10.1007/s12017-007-8000-3
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- Publication type:
- Article
Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.
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- Phytotherapy Research, 2014, v. 28, n. 2, p. 312, doi. 10.1002/ptr.4988
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- Publication type:
- Article
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
- Published in:
- 2007
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- Publication type:
- journal article
X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 1, p. 73
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- Publication type:
- Article
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 2, p. 394
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- Publication type:
- Article
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
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- Annals of Neurology, 2003, v. 54, n. 5, p. 665
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- Publication type:
- Article
Association between coenzyme Q<sub>10</sub> and glucose transporter (GLUT1) deficiency
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- BMC Pediatrics, 2014, v. 14, n. 1, p. 284, doi. 10.1186/s12887-014-0284-5
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- Publication type:
- Article
Characterization of CoQ biosynthesis in fibroblasts of patients with primary and secondary CoQ deficiency.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 53, doi. 10.1007/s10545-013-9620-4
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- Publication type:
- Article
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 841, doi. 10.1007/s10545-012-9565-z
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- Publication type:
- Article
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG).
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- 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
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 315, doi. 10.1007/s10545-010-9169-4
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- Publication type:
- Article
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 293, doi. 10.1007/s10545-010-9155-x
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- Publication type:
- Article
Relación de los estilos de aprendizaje, habilidad emocional, habilidades múltiples y detección emocional en estudiantes de educación física de Santiago de Chile.
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- Revista Ciencias de la Actividad Física UCM, 2021, v. 22, n. 2, p. 1, doi. 10.29035/rcaf.22.2.1
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- Publication type:
- Article
Expanding the clinical phenotypes of MT-ATP6 mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6191
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- Publication type:
- Article
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1907, doi. 10.1093/hmg/ddt585
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- Publication type:
- Article
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
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- Investigación Clínica, 2010, v. 51, n. 3, p. 423
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- Publication type:
- Article
Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.
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- 2005
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- Publication type:
- journal article
Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients.
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- Journal of Child Neurology, 2010, v. 25, n. 3, p. 352, doi. 10.1177/0883073809340696
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- Publication type:
- Article
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
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- Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
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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).
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- Human Mutation, 2009, v. 30, n. 11, p. 1558, doi. 10.1002/humu.21107
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- Publication type:
- Article
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
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- Human Mutation, 2008, v. 29, n. 8, p. E112, doi. 10.1002/humu.20800
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- Publication type:
- Article
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation.
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- Human Molecular Genetics, 2007, v. 16, n. 7, p. 717, doi. 10.1093/hmg/ddl476
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- Publication type:
- Article
The Charcot–Marie–Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1405, doi. 10.1093/hmg/ddi149
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- Publication type:
- Article
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
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- Neurogenetics, 2012, v. 13, n. 3, p. 245, doi. 10.1007/s10048-012-0322-0
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- Publication type:
- Article
Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.
- Published in:
- 2017
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- Publication type:
- Case Study
Coenzyme Q<sub>10</sub>-responsive ataxia: 2-year-treatment follow-up.
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- Movement Disorders, 2010, v. 25, n. 9, p. 1262, doi. 10.1002/mds.23129
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- Publication type:
- Article
Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
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- Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N
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- Publication type:
- Article