"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.
about
Pyruvate dehydrogenase deficiencyAn amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againA novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.X chromosome inactivation and the diagnosis of X linked disease in femalesValue of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha geneBeneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsThe spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.Mitochondria-related encephalomyopathies.Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.A disorder of axonal development, necrotizing myopathy, cardiomyopathy, and cataracts: a new familial disease.
P2860
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P2860
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
"Cerebral" lactic acidosis: de ...... and minimal systemic acidosis.
@en
type
label
"Cerebral" lactic acidosis: de ...... and minimal systemic acidosis.
@en
prefLabel
"Cerebral" lactic acidosis: de ...... and minimal systemic acidosis.
@en
P2093
P356
P1476
"Cerebral" lactic acidosis: de ...... and minimal systemic acidosis.
@en
P2093
J E Wraith
J G Rogers
R D Scholem
P2888
P356
10.1007/BF00442603
P577
1988-01-01T00:00:00Z