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Literature DB >> 7887408

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

H H Dahl.

Abstract

Mesh：

Substances：

Year: 1995 PMID： 7887408 PMCID： PMC1801181

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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42 in total

1. A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

Authors: H Endo; S Miyabayashi; K Tada; K Narisawa
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

2. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

Authors: H Endo; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

3. Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation.

Authors: T C Linn; F H Pettit; L J Reed
Journal: Proc Natl Acad Sci U S A Date: 1969-01 Impact factor: 11.205

4. A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.

Authors: D S Kerr; S A Berry; M M Lusk; L Ho; M S Patel
Journal: Pediatr Res Date: 1988-07 Impact factor: 3.756

5. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

Authors: G K Brown; R D Scholem; S M Hunt; J R Harrison; A C Pollard
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

Review 6. Mammalian X-chromosome inactivation.

Authors: S M Gartler; A D Riggs
Journal: Annu Rev Genet Date: 1983 Impact factor: 16.830

7. Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.

Authors: I D Wexler; D S Kerr; L Ho; M M Lusk; R A Pepin; A A Javed; J E Mole; B W Jesse; T J Thekkumkara; G Pons
Journal: Proc Natl Acad Sci U S A Date: 1988-10 Impact factor: 11.205

8. 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.

Authors: K Chun; N MacKay; R Petrova-Benedict; A Federico; A Fois; D E Cole; E Robertson; B H Robinson
Journal: Am J Hum Genet Date: 1995-03 Impact factor: 11.025

9. "Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Authors: G K Brown; E A Haan; D M Kirby; R D Scholem; J E Wraith; J G Rogers; D M Danks
Journal: Eur J Pediatr Date: 1988-01 Impact factor: 3.183

10. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.

Authors: B H Robinson; J Taylor; W G Sherwood
Journal: Pediatr Res Date: 1980-08 Impact factor: 3.756

15 in total

1. More on the X files.

Authors: R M Harding
Journal: Proc Natl Acad Sci U S A Date: 1999-03-16 Impact factor: 11.205

2. MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors: Nicholas Ah Mew; Johanna B Loewenstein; Nadja Kadom; Uta Lichter-Konecki; Andrea L Gropman; Jodie M Martin; Adeline Vanderver
Journal: Pediatr Neurol Date: 2011-07 Impact factor: 3.372

3. Pyruvate dehydrogenase complex deficiency and absence of subunit X.

Authors: L De Meirleir; W Lissens; C Benelli; C Marsac; J De Klerk; J Scholte; O van Diggelen; W Kleijer; S Seneca; I Liebaers
Journal: J Inherit Metab Dis Date: 1998-02 Impact factor: 4.982

4. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Authors: F Takakubo; P Cartwright; N Hoogenraad; D R Thorburn; F Collins; T Lithgow; H H Dahl
Journal: Am J Hum Genet Date: 1995-10 Impact factor: 11.025