Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-6 of  6 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""

Your Filters

Publisher : saunders
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

  • Authors : Sen K; Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington DC, USA. Electronic address: .; Grahame G

Subjects: Mothers*; Guillain-Barre Syndrome/Guillain-Barre Syndrome/Guillain-Barre Syndrome/*genetics ; Hemiplegia/Hemiplegia/Hemiplegia/*genetics Alternating hemiplegia of childhood

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Mar; Vol. 31, pp. 27-30. Date of ElectronicPublisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium:

Record details

Read More Add to Saved list
×
Academic Journal

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

  • Authors : Castiglioni C; Unit of Neurology, Dept. of Pediatrics and Dept. of Neurology, Clínica las Condes, Santiago, Chile. Electronic address: .; Verrigni D

Subjects: Dietary Supplements*; Dystonic Disorders/Dystonic Disorders/Dystonic Disorders/*etiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*complications Dystonia 18

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 Sep; Vol. 19 (5), pp. 497-503. Date of Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium:

Record details

Read More Add to Saved list
×
Academic Journal

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

  • Authors : McWilliam CA; Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Dalnair Street, Glasgow, G3 8SJ, UK. ; Ridout CK

Subjects: Dystonia/Dystonia/Dystonia/*etiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*complications; Autoantigens/Autoantigens/Autoantigens/genetics

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2010 Jul; Vol. 14 (4), pp. 349-53. Date of Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium:

Record details

Read More Add to Saved list
×
Academic Journal

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.

  • Authors : Di Rocco M; II Paediatric Division, Gaslini Institute, Genoa, Italy.; Lamba LD

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*; Leigh Disease/Leigh Disease/Leigh Disease/*diagnosis ; Leigh Disease/Leigh Disease/Leigh Disease/*drug therapy

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2000; Vol. 4 (3), pp. 115-7.Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print Cited Medium: Print ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Clinical neurogenetics: neurologic presentations of metabolic disorders.

  • Authors : Kwon JM; Division of Child Neurology, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA; Division of Child Neurology, Department of Pediatrics, University of Rochester Medical Center, Rochester, NY, USA. Electronic address: .

Subjects: Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*diagnosis ; Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/Brain Diseases, Metabolic, Inborn/*genetics ; Metabolism, Inborn Errors/Metabolism, Inborn Errors/Metabolism, Inborn Errors/*diagnosis

  • Source: Neurologic clinics [Neurol Clin] 2013 Nov; Vol. 31 (4), pp. 1031-50. Date of Electronic Publication: 2013 Aug 08.Publisher: Saunders Country of Publication: United States NLM ID: 8219232 Publication Model: Print-Electronic Cited Medium:

Record details

Read More Add to Saved list
×
Academic Journal

The inherited ataxias.

Subjects: Ataxia/Ataxia/Ataxia/*genetics; Brain/Brain/Brain/metabolism ; Cells, Cultured

  • Source: Neurologic clinics [Neurol Clin] 1985 Feb; Vol. 3 (1), pp. 47-57.Publisher: Saunders Country of Publication: United States NLM ID: 8219232 Publication Model: Print Cited Medium: Print

Record details

Read More Add to Saved list
×
  • 1-6 of  6 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""