Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01313.x/fullpdf
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2. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency;Brown;Hum Genet,2004
3. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency;Brown;Dev Med Child Neurol,2006
4. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency;Head;Ann Neurol,2005
5. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation;Maj;J Clin Endocrinol Metab,2005
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2. Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes;Molecular Genetics & Genomic Medicine;2021-06-22
3. Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother;European Journal of Paediatric Neurology;2021-03
4. Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia;Mitochondrion;2020-11
5. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients;Orphanet Journal of Rare Diseases;2020-10-22
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