pyruvate dehydrogenase deficiency
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scholarly journals Pyruvate dehydrogenase deficiency

2022 ◽  
Author(s):  
Jeremy Jones ◽  
Shailendra Naik
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency

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

2021 ◽  
Author(s):  
Katarina Šikić ◽  
Danijela Petković Ramadža ◽  
Tamara Žigman ◽  
Nina Barišić ◽  
Ivan Lehman ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Pyruvate Dehydrogenase Deficiency

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

2021 ◽  
Author(s):  
YanYan Ma ◽  
YaoGang Zhang ◽  
Tao Zhang ◽  
Zhu Man ◽  
XiaoMing Su ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Deficiency Disease ◽  
Pyruvate Dehydrogenase Deficiency ◽  
Peripheral Leukocytes

scholarly journals Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies

2021 ◽  
Vol 5 (2) ◽  
pp. 18
Author(s):  
Mariam Hassan ◽  
Ali Hassan ◽  
Ahmed Shatila ◽  
Sudhir Kumar Chirakarra
Keyword(s):  
Case Studies ◽  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency

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

2020 ◽  
Vol 79 (2) ◽  
pp. 191-197 ◽  
Author(s):  
A. Ebertowska ◽  
B. Ludkiewicz ◽  
I. Klejbor ◽  
N. Melka ◽  
J. Moryś
Keyword(s):  
Animal Model ◽  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Metabolic Effects ◽  
Curative Treatment ◽  
Pyruvate Dehydrogenase Deficiency

scholarly journals Considerations on the management of pyruvate dehydrogenase deficiency

2020 ◽  
Vol 79 (2) ◽  
pp. 415-416
Author(s):  
J. Finsterer
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency
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