pyruvate dehydrogenase deficiency Recently Published Documents

106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations

10.1136/archdischild-2021-europaediatrics.106 ◽

2021 ◽

Author(s):

Katarina Šikić ◽

Danijela Petković Ramadža ◽

Tamara Žigman ◽

Nina Barišić ◽

Ivan Lehman ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Clinical Phenotype ◽

Gene Mutations ◽

Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1728 ◽

2021 ◽

Author(s):

YanYan Ma ◽

YaoGang Zhang ◽

Tao Zhang ◽

Zhu Man ◽

XiaoMing Su ◽

...

Keyword(s):

Enzyme Activity ◽

Pyruvate Dehydrogenase ◽

Deficiency Disease ◽

Pyruvate Dehydrogenase Deficiency ◽

Peripheral Leukocytes

Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies

Clinical Neurology and Neuroscience ◽

10.11648/j.cnn.20210502.13 ◽

2021 ◽

Vol 5 (2) ◽

pp. 18

Author(s):

Mariam Hassan ◽

Ali Hassan ◽

Ahmed Shatila ◽

Sudhir Kumar Chirakarra

Keyword(s):

Case Studies ◽

Pyruvate Dehydrogenase ◽

Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis

Medical Hypotheses ◽

10.1016/j.mehy.2020.110432 ◽

2020 ◽

pp. 110432

Author(s):

Jiyoung Oh ◽

Chungmo Koo ◽

Kyung Won Kim ◽

Jin-Sung Lee

Keyword(s):

Pyruvate Dehydrogenase ◽

Potential Role ◽

Pyruvate Dehydrogenase Deficiency ◽

Case Based

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2020.100629 ◽

2020 ◽

Vol 24 ◽

pp. 100629 ◽

Cited By ~ 1

Author(s):

Surita Meldau ◽

Carl Fratter ◽

Louisa Ntombenhle Bhengu ◽

Kate Sergeant ◽

Kashief Khan ◽

...

Keyword(s):

South Africa ◽

Genetic Testing ◽

Pyruvate Dehydrogenase ◽

Metabolic Disorders ◽

Pyruvate Dehydrogenase Deficiency ◽

Inherited Metabolic Disorders

Triheptanoin in Pyruvate Dehydrogenase Deficiency

Journal of Pediatric Neurology ◽

10.1055/s-0040-1714069 ◽

2020 ◽

Author(s):

Pankaj Prasun

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment

Folia Morphologica ◽

10.5603/fm.a2020.0020 ◽

2020 ◽

Vol 79 (2) ◽

pp. 191-197 ◽

Cited By ~ 2

Author(s):

A. Ebertowska ◽

B. Ludkiewicz ◽

I. Klejbor ◽

N. Melka ◽

J. Moryś

Keyword(s):

Animal Model ◽

Pyruvate Dehydrogenase ◽

Metabolic Effects ◽

Curative Treatment ◽

Considerations on the management of pyruvate dehydrogenase deficiency

Folia Morphologica ◽

10.5603/fm.a2020.0046 ◽

2020 ◽

Vol 79 (2) ◽

pp. 415-416

Author(s):

J. Finsterer

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Deficiency with Cerebral Vasculitis

American Journal of Biomedical Science & Research ◽

10.34297/ajbsr.2020.09.001344 ◽

2020 ◽

Vol 9 (1) ◽

pp. 13-17

Author(s):

Navya Joseph

Keyword(s):

Pyruvate Dehydrogenase ◽

Cerebral Vasculitis ◽