Concepedia

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

Etsuo Naito, Michinori Ito, Ichiro Yokota, Takahiko Saijo, Junko Matsuda, Yukiko Ogawa, S Kitamura, Eiko Takada, Yoshihiro Horii, Yasuhiro Kuroda

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2002 · 53 citations · 19 references

DOI

Concepts

References

19

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Molecular Analysis of Abnormal Pyruvate Dehydrogenase in a Patient with Thiamine-Responsive Congenital Lactic Acidemia

Etsuo Naito, Michinori Ito, Eiji Takeda et al. · Pediatric Research · 1994 · 68 citations · Full text

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Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

Kathy Chun, Neviana MacKay, Roumyana Petrova-Benedict et al. · Human Molecular Genetics · 1993 · 54 citations

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Kathy Chun, N. MacKay, Roumyana Petrova-Benedict et al. · PubMed · 1995 · 53 citations

Isolation and characterisation of the mouse pyruvate dehydrogenase E1α genes

James J. FitzGerald, Wendy Hutchison, Hans‐Henrik M. Dahl · Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1992 · 50 citations

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