Literature DB >> 8982956

Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.

P Briones1, M J López, L De Meirleir, A Ribes, M Rodés, C Martinez-Costa, M Peris, W Lissens.   

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Year:  1996        PMID： 8982956     DOI： 10.1007/bf01799177

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Authors:  W Lissens; L De Meirleir; S Seneca; C Benelli; C Marsac; B T Poll-The; P Briones; W Ruitenbeek; O van Diggelen; D Chaigne; V Ramaekers; I Liebaers
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878
  1 in total
  6 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

3.  A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.

Authors:  A Seyda; K Chun; S Packman; B H Robinson
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

4.  Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.

Authors:  Takanobu Yoshida; Jun Kido; Hiroshi Mitsubuchi; Shirou Matsumoto; Fumio Endo; Kimitoshi Nakamura
Journal:  Hum Genome Var       Date:  2017-06-01

5.  Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.

Authors:  Ali Al Kaissi; Herbert Kurz; Wolfgang Bock; Gerald Pärtan; Klaus Klaushofer; Rudolf Ganger; Franz Grill
Journal:  Case Rep Orthop       Date:  2014-01-29

6.  Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.

Authors:  May Yung Tiet; Zhiyuan Lin; Fei Gao; Matthew James Jennings; Rita Horvath
Journal:  J Neuromuscul Dis       Date:  2021
  6 in total

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