Results 161 to 170 of about 4,222 (186)
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Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
Molecular Genetics and Metabolism, 2010Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more ...
Curtis R, Coughlin +6 more
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Molecular Genetics and Metabolism, 2001
A deficiency of pyruvate dehydrogenase complex (PDC) in humans results in lactic acidosis and neurological dysfunction that frequently results in death during infancy. Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the ...
M T, Johnson +6 more
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A deficiency of pyruvate dehydrogenase complex (PDC) in humans results in lactic acidosis and neurological dysfunction that frequently results in death during infancy. Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the ...
M T, Johnson +6 more
openaire +2 more sources
European Journal of Paediatric Neurology, 2017
Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC ...
Luc De Catte +2 more
exaly +3 more sources
Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC ...
Luc De Catte +2 more
exaly +3 more sources
Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency [PDF]
Frontiers in PediatricsA pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders.
Chi Dung Vu +2 more
exaly +2 more sources
Pyruvate dehydrogenase deficiency: Novel PDHA1 mutation in a child with progressive encephalopathy
Neuropediatrics, 2012Pyruvate dehydrogenase complex (PDHc) deficiency is an inborn error of carbohydrate metabolism that is heterogeneous in its presentation and clinical course. Most cases of PDHc deficiency are attributable to mutations in the X-chromosomal PDHA1 gene which encodes the E1α subunit.
C Schenke +5 more
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Molecular Genetics and Metabolism, 2010
We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any ...
Benjamin H, Singer +3 more
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We present a patient with congenital lactic acidosis, agenesis of the corpus callosum, and profound developmental delay. Assays of pyruvate dehydrogenase complex function were normal in lymphocytes, but decreased in fibroblasts. Sequencing of the PDHA1 gene did not reveal deleterious mutations, and BAC based microarray analysis did not reveal any ...
Benjamin H, Singer +3 more
openaire +2 more sources
Clinical Genetics, 2010
Quintana E, Gort L, Busquets C, Navarro‐Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.We screened forPDHA1mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong ...
Quintana, E. +10 more
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Quintana E, Gort L, Busquets C, Navarro‐Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.We screened forPDHA1mutations in 40 patients with biochemically demonstrated PDHc deficiency or strong ...
Quintana, E. +10 more
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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals (45% unpublished) were included. Of note, 53% of cases were females.Merkevicius, Kajus +33 more
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Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2016
To study the molecular genetic mechanism and genetic diagnosis of pyruvate dehydrogenase complex deficiency (PHD), and to provide a basis for genetic counseling and prenatal genetic diagnosis of PHD.Polymerase chain reaction (PCR) was performed to amplify the 11 exons and exon junction of the PDHA1 gene from a child who was diagnosed with PHD based on ...
Mo-Ling, Wu +11 more
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To study the molecular genetic mechanism and genetic diagnosis of pyruvate dehydrogenase complex deficiency (PHD), and to provide a basis for genetic counseling and prenatal genetic diagnosis of PHD.Polymerase chain reaction (PCR) was performed to amplify the 11 exons and exon junction of the PDHA1 gene from a child who was diagnosed with PHD based on ...
Mo-Ling, Wu +11 more
openaire +1 more source