The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachCerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.Regulation of pyruvate metabolism and human diseasePhenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.The genetics of Leigh syndrome and its implications for clinical practice and risk managementEmbryonic Lethality of Mitochondrial Pyruvate Carrier 1 Deficient Mouse Can Be Rescued by a Ketogenic Diet.The use of ketogenic diet in special situations: expanding use in intractable epilepsy and other neurologic disordersDifferential expression of glucose-metabolizing enzymes in multiple sclerosis lesions.Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.Long-term safety of dichloroacetate in congenital lactic acidosis.The long and winding road to the mitochondrial pyruvate carrierSomatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomesEstablishment of mitochondrial pyruvate carrier 1 (MPC1) gene knockout mice with preliminary gene function analyses.The pyruvate dehydrogenase complex as a therapeutic target for age-related diseases.Peripheral neuropathy associated with mitochondrial disease in children.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues.Elevated miR-130a/miR130b/miR-152 expression reduces intracellular ATP levels in the pancreatic beta cell.Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Pyruvate Dehydrogenase Activity Is Decreased in Emergency Department Patients With Diabetic Ketoacidosis.Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.Thiamine and selected thiamine antivitamins - biological activity and methods of synthesis.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.A systematic study of the cellular metabolic regulation of Jhdm1b in tumor cells.Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings
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P2860
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 07 October 2011
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The spectrum of pyruvate dehyd ...... netic features in 371 patients
@en
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@nl
type
label
The spectrum of pyruvate dehyd ...... netic features in 371 patients
@en
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@nl
prefLabel
The spectrum of pyruvate dehyd ...... netic features in 371 patients
@en
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@nl
P2093
P2860
P1476
The spectrum of pyruvate dehyd ...... netic features in 371 patients
@en
P2093
Jonathan Shuster
Kavi P Patel
Peter W Stacpoole
Sankarasubramon H Subramony
Thomas W O'Brien
P2860
P356
10.1016/J.YMGME.2011.09.032
P577
2011-10-07T00:00:00Z