Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.
about
Pyruvate dehydrogenase deficiencySeizures and X-linked intellectual disabilityCharacterization of cDNAs encoding human pyruvate dehydrogenase alpha subunitAn amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinCerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survivalDefects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.Clinical spectrum and diagnosis of mitochondrial disorders.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Key proteins of activating cell death can be predicted through a kainic acid-induced excitotoxic stress.Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha geneMutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.Inherited metabolic diseases and pregnancy.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsOrganic acidurias: a review. Part 1.Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomesThe spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Infantile spasms (West syndrome) in children with inborn errors of metabolism: a review of the literature.Genetic defects in human pyruvate dehydrogenase.The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.Metabolic acidosis in newborn infants.Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.Craniofacial anomalies and malformations in respiratory chain deficiency.Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency.A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.Metabolic etiologies in West syndrome.
P2860
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P2860
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年学术文章
@wuu
1987年学术文章
@zh-cn
1987年学术文章
@zh-hans
1987年学术文章
@zh-my
1987年学术文章
@zh-sg
1987年學術文章
@yue
1987年學術文章
@zh
1987年學術文章
@zh-hant
name
Variable clinical presentation ...... yruvate dehydrogenase complex.
@en
Variable clinical presentation ...... yruvate dehydrogenase complex.
@nl
type
label
Variable clinical presentation ...... yruvate dehydrogenase complex.
@en
Variable clinical presentation ...... yruvate dehydrogenase complex.
@nl
prefLabel
Variable clinical presentation ...... yruvate dehydrogenase complex.
@en
Variable clinical presentation ...... yruvate dehydrogenase complex.
@nl
P2093
P1476
Variable clinical presentation ...... yruvate dehydrogenase complex.
@en
P2093
MacMillan H
Petrova-Benedict R
Robinson BH
Sherwood WG
P304
P356
10.1016/S0022-3476(87)80112-9
P407
P577
1987-10-01T00:00:00Z