Prenatal diagnosis of pyruvate dehydrogenase E1α subunit deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Reference19 articles.
1. Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status
2. Pyruvate dehydrogenase E1α deficiency
3. The Clinical and Biochemical Spectrum of Human Pyruvate Dehydrogenase Complex Deficiency
4. X chromosome inactivation and the diagnosis of X linked disease in females.
5. X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex
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1. Novel imaging findings in pyruvate dehydrogenase complex ( PDHc ) deficiency—Results from a nationwide population‐based study;Journal of Inherited Metabolic Disease;2021-12-17
2. Neuroimaging Findings in Primary Mitochondrial Cytopathies;Diagnosis and Management of Mitochondrial Disorders;2019
3. Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency;Prenatal Diagnosis;2018-06-27
4. Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency;Molecular Genetics and Metabolism Reports;2016-06
5. Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis;Gene;2012-09
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