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Research article

First published 2020-2

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency

Emily Shelkowitz, Can Ficicioglu, Nicholas Stence [...]

Journal of Child Neurology

Free access

Rapid communication

First published 2002-7

Detection of Pyruvate Dehydrogenase E1α-subunit Deficiencies in Females by Immunohistochemical Demonstration of Mosaicism in Cultured Fibroblasts

Margarita Y. Lib, Ruth M. Brown, Garry K. Brown [...]

Journal of Histochemistry & Cytochemistry

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Research article

First published 2012-12

Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment

Veronica Di Pisa, Ilaria Cecconi, Valentina Gentile [...]

Journal of Child Neurology

Open access

Research article

First published 2024-5

Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report

Hao Zhou, Yin Wen, Hongguang Ding

Journal of International Medical Research

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Research article

First published 2025

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants

Sofia Corbaz, Daniela Alejandra Pibernus, Mariana Amina Loos [...]

Journal of Child Neurology

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Research article

First published 2020-6

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

Ahmed Gilani, Johan LK Van Hove, Janet A Thomas [...]

Pediatric and Developmental Pathology

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Research article

First published 2006-05

Reconciling Diabetes Management and the Ketogenic Diet in a Child with Pyruvate Dehydrogenase Deficiency

Maria J. Henwood, Paul S. Thornton, Christina M. Preis [...]

Journal of Child Neurology

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Other

First published 1997-11

Autopsy Findings in Pyruvate Dehydrogenase E1α Deficiency: Case Report

Satoru Takahashi, Junichi Oki, Akie Miyamoto [...]

Journal of Child Neurology

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Other

First published 1997-02

Recurrent Muscle Weakness and Ataxia in Thiamine-Responsive Pyruvate Dehydrogenase Complex Deficiency

Hirotoshi Kinoshita, Norio Sakuragawa, Hiroshi Tada [...]

Journal of Child Neurology

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Research article

First published 1994-01

Leigh Syndrome: Pyruvate Dehydrogenase Defect. A Case With Peripheral Neuropathy

B. Chabrol, J. Mancini, C. Benelli [...]

Journal of Child Neurology

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