The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
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Sleep disorders associated with primary mitochondrial diseasesA new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survivalmTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome.The pyruvate dehydrogenase complexes: structure-based function and regulation.Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.Elucidation of the interaction loci of the human pyruvate dehydrogenase complex E2·E3BP core with pyruvate dehydrogenase kinase 1 and kinase 2 by H/D exchange mass spectrometry and nuclear magnetic resonanceMutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activityLiver glucose metabolism in humans.Pyruvate dehydrogenase expression is negatively associated with cell stemness and worse clinical outcome in prostate cancers.Proteome dynamics during postnatal mouse corpus callosum development.Leigh syndrome: One disorder, more than 75 monogenic causes.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Pyruvate Dehydrogenase Activity Is Decreased in Emergency Department Patients With Diabetic Ketoacidosis.Metabolism and bioenergetics in the right ventricle and pulmonary vasculature in pulmonary hypertension.Global view of cognate kinase activation by the human pyruvate dehydrogenase complex.Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.Therapeutic Targeting of the Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Kinase (PDC/PDK) Axis in Cancer.Arsenic Exposure Induces Glucose Intolerance and Alters Global Energy Metabolism.Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.The Pyruvate Dehydrogenase Complex and Related Assemblies in Health and Disease.Metabolite profiling study on the toxicological effects of polybrominated diphenyl ether in a rat model.Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.Demyelination in Multiple Sclerosis: Reprogramming Energy Metabolism and Potential PPARγ Agonist Treatment Approaches.Color Processing in Zebrafish RetinaPyruvate dehydrogenase complex stimulation promotes immunometabolic homeostasis and sepsis survivalSuppression of PDHX by microRNA-27b deregulates cell metabolism and promotes growth in breast cancer
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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2012
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@en
type
label
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@en
prefLabel
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@en
P2093
P2860
P1476
The spectrum of pyruvate dehyd ...... etic features in 371 patients.
@en
P2093
Jonathan Shuster
Kavi P Patel
Peter W Stacpoole
Sankarasubramon H Subramony
Thomas W O'Brien
P2860
P304
P356
10.1016/J.YMGME.2012.03.017
P577
2012-07-01T00:00:00Z