Found: 12
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Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 6, p. 853, doi. 10.1007/s10072-015-2197-y
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- Publication type:
- Article
Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.
- Published in:
- Journal of Pathology, 2024, v. 263, n. 1, p. 8, doi. 10.1002/path.6255
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- Publication type:
- Article
Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging.
- Published in:
- Neuropsychiatric Disease & Treatment, 2021, v. 17, p. 1451, doi. 10.2147/NDT.S296424
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- Publication type:
- Article
Changes in Metalloproteinase and Tissue Inhibitor of Metalloproteinase during Tachycardia-Induced Cardiomyopathy by Rapid Atrial Pacing in Dogs.
- Published in:
- Cardiology, 2006, v. 106, n. 1, p. 22, doi. 10.1159/000092519
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- Publication type:
- Article
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03282-y
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- Publication type:
- Article
Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Studies in a Chinese Population.
- Published in:
- NeuroMolecular Medicine, 2014, v. 16, n. 4, p. 782, doi. 10.1007/s12017-014-8327-5
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- Publication type:
- Article
Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome.
- Published in:
- NeuroMolecular Medicine, 2014, v. 16, n. 1, p. 119, doi. 10.1007/s12017-013-8264-8
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- Publication type:
- Article
Changes in connexin 43, metalloproteinase and tissue inhibitor of metalloproteinase during tachycardia-induced cardiomyopathy in dogs
- Published in:
- European Journal of Heart Failure, 2007, v. 9, n. 1, p. 23, doi. 10.1016/j.ejheart.2006.04.014
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- Publication type:
- Article
ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
Anti-HMGCR myopathy overlaps with dermatomyositis-like rash: a distinct subtype of idiopathic inflammatory myopathy.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 1, p. 280, doi. 10.1007/s00415-021-10621-7
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- Publication type:
- Article
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 3, p. 399, doi. 10.1007/s10545-013-9671-6
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- Publication type:
- Article
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 7, p. 1115, doi. 10.1093/hmg/ddab308
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- Publication type:
- Article