Results 211 to 220 of about 22,061 (226)

Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging

Baylor University Medical Center Proceedings, 2022
Jasmin Rahesh, Rohan Anand, Roy Jacob
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Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report

Pediatric Neurology, 2023
Mitsuo Motobayashi, Takuya Fushimi, Kei Murayama   +2 more
exaly  

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Biochimie, 2021
Diana Lousã, Catarina S Tome, Cristina Florindo   +2 more
exaly  

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

Journal of Child Neurology, 2020
Emily Shelkowitz, Can Ficicioglu, Nicholas V Stence   +2 more
exaly  

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

Human Mutation, 2000
Willy Lissens, Linda De Meirleir, Sara Seneca   +2 more
exaly  

Pyruvate dehydrogenase phosphatase deficiency: Orphan disease or an under-diagnosed condition?

Molecular and Cellular Endocrinology, 2006
B H Robinson
exaly  

Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency

Pediatrics International, 2018
Rie Chida, Masaru Shimura, Shigeo Nishimata   +2 more
exaly  

Loss of Oligodendrocytes in Mouse Model of Pyruvate Dehydrogenase Complex Deficiency and Partial Reversal by Phenylbutyrate Treatment

Translational Neuroscience Research and Reviews, 2020
Patel Mulchand S
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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD Reports, 2019
Jirair K Bedoyan, Ann Bergin, Didem Demirbas   +2 more
exaly  

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

Molecular Genetics and Metabolism, 2012
Jonathan J Shuster, Peter W Stacpoole
exaly