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Academic Journal

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

  • Authors : Horga A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos, IdISSC, Madrid, Spain.

Subjects: Mutation* ; X Chromosome Inactivation*; Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/*genetics

  • Source: Human genetics [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1313-1322. Date of Electronic Publication: 2019 Oct 31.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/*pathology; Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/genetics; Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/*pathology

  • Source: Acta neuropathologica [Acta Neuropathol] 1993; Vol. 85 (6), pp. 674-8.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print Cited Medium: Print

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Academic Journal

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

  • Authors : Lissens W; Department of Paediatric Neurology, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium. ; Vreken P

Subjects: Mutation* ; Pyruvate Dehydrogenase (Lipoamide)*; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics

  • Source: European journal of pediatrics [Eur J Pediatr] 1999 Oct; Vol. 158 (10), pp. 853-7.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print

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Academic Journal

Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.

  • Authors : Naito E; Department of Paediatrics, School of Medicine, University of Tokushima, Japan.; Ito M

Subjects: Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics ; Thiamine/Thiamine/Thiamine/*administration & dosage

  • Source: European journal of pediatrics [Eur J Pediatr] 1998 Aug; Vol. 157 (8), pp. 648-52.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print

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Academic Journal

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

  • Authors : Marsac C; INSERM U75, Faculté de médecine Necker, Paris, France.; Benelli C

Subjects: Pyruvate Dehydrogenase (Lipoamide)*; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics

  • Source: Human genetics [Hum Genet] 1997 Jun; Vol. 99 (6), pp. 785-92.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print

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Academic Journal

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.

  • Authors : Sperl W; Department of Paediatrics, University Hospital of Nijmegen, The Netherlands.; Ruitenbeek W

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*; Mitochondria, Muscle/Mitochondria, Muscle/Mitochondria, Muscle/*enzymology ; Muscles/Muscles/Muscles/*enzymology

  • Source: European journal of pediatrics [Eur J Pediatr] 1992 Mar; Vol. 151 (3), pp. 192-5.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print

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Academic Journal

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

  • Authors : De Meirleir L; Laboratory of Medical Genetics, Vrije Universiteit Brussel (VUB), Belgium.; Lissens W

Subjects: Mutation* ; Pyruvate Dehydrogenase Complex Deficiency Disease*; Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/congenital

  • Source: Human genetics [Hum Genet] 1992 Mar; Vol. 88 (6), pp. 649-52.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print

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Academic Journal

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

  • Authors : Sperl W; Department of Paediatrics, University of Nijmegen, The Netherlands.; Ruitenbeek W

Subjects: Acidosis, Lactic/Acidosis, Lactic/Acidosis, Lactic/*etiology ; Death, Sudden/Death, Sudden/Death, Sudden/*etiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*enzymology

  • Source: European journal of pediatrics [Eur J Pediatr] 1990 Apr; Vol. 149 (7), pp. 487-92.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print Cited Medium: Print

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Academic Journal

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.

  • Authors : João Silva M; Unidade de Biologia Molecular e Biopatologia Experimental, Centro de Patogénese Molecular, Faculdade de Farmácia da Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.; Pinheiro A

Subjects: Arginine/Arginine/Arginine/*therapeutic use ; Aspartic Acid/Aspartic Acid/Aspartic Acid/*therapeutic use ; Point Mutation/Point Mutation/Point Mutation/*genetics

  • Source: European journal of pediatrics [Eur J Pediatr] 2009 Jan; Vol. 168 (1), pp. 17-22. Date of Electronic Publication: 2008 Apr 09.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

  • Authors : Debray FG; Division of Medical Genetics, CHU Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montreal, Québec, H3T 1C5, Canada.; Lambert M

Subjects: Muscle Weakness/Muscle Weakness/Muscle Weakness/*etiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*complications ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*diagnosis

  • Source: European journal of pediatrics [Eur J Pediatr] 2006 Jul; Vol. 165 (7), pp. 462-6. Date of Electronic Publication: 2006 Mar 22.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  28 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""