(Q82906834)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16552546%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency (English)

1 reference

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18 January 2020

3

Michel Vanasse

1 reference

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18 January 2020

0 references

Francois-G Debray

1

1 reference

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18 January 2020

Marie Lambert

2

1 reference

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18 January 2020

Jean-Claude Decarie

4

1 reference

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18 January 2020

Jessie Cameron

5

1 reference

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18 January 2020

Valeriy Levandovskiy

6

1 reference

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18 January 2020

Brian H Robinson

7

1 reference

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18 January 2020

Grant A Mitchell

8

1 reference

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18 January 2020

publication date

22 March 2006

1 reference

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European Journal of Pediatrics

18 January 2020

published in

1 reference

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18 January 2020

volume

165

1 reference

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18 January 2020

issue

7

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18 January 2020

page(s)

462-466

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https://scigraph.springernature.com/pub.10.1007/s00431-006-0104-5

18 January 2020

exact match

0 references

cites work

El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

1 reference

12 December 2020

Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Variants and mimics of Guillain Barré Syndrome

1 reference

12 December 2020

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

1 reference

12 December 2020

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy

1 reference

12 December 2020

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

1 reference

12 December 2020

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

1 reference

12 December 2020

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.

1 reference

12 December 2020

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Late-onset presentation of pyruvate dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Episodic weakness in pyruvate decarboxylase deficiency

1 reference

12 December 2020

Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide

1 reference

12 December 2020

Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts

1 reference

12 December 2020

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

1 reference

12 December 2020

Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

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

1 reference

12 December 2020

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene

1 reference

12 December 2020

Childhood Guillain-Barré syndrome: clinical presentation, diagnosis, and therapy

1 reference

12 December 2020

Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020