Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

1992 ◽  
Vol 15 (6) ◽  
pp. 848-856 ◽  
Author(s):  
M. Ito ◽  
A. H. M. M. Huq ◽  
E. Naito ◽  
T. Saijo ◽  
E. Takeda ◽  
...  
Keyword(s):  
Female Patient ◽  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency ◽  
Rapid Degradation ◽  
E1 Protein

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients

2012 ◽  
Vol 55 (10) ◽  
pp. 535-540 ◽  
Author(s):  
Mariam Tajir ◽  
Jean Baptiste Arnoux ◽  
Audrey Boutron ◽  
Siham Chafai Elalaoui ◽  
Pascale De Lonlay ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency ◽  
New Mutation ◽  
Moroccan Patients

Phenylbutyrate therapy for pyruvate dehydrogenase deficiency

Mitochondrion ◽  
2012 ◽  
Vol 12 (5) ◽  
pp. 572-573
Author(s):  
Rosa Ferriero ◽  
Eleonora Lamantea ◽  
Edoardo Nusco ◽  
Luisa Bonafè ◽  
Brendan Lee ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene

1999 ◽  
Vol 158 (10) ◽  
pp. 853-857 ◽  
Author(s):  
W. Lissens ◽  
P. Vreken ◽  
P. G. Barth ◽  
F. A. Wijburg ◽  
W. Ruitenbeek ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Dehydrogenase Deficiency ◽  
New Mutations

scholarly journals Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Takanobu Yoshida ◽  
Jun Kido ◽  
Hiroshi Mitsubuchi ◽  
Shirou Matsumoto ◽  
Fumio Endo ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Clinical Manifestations ◽  
Pyruvate Dehydrogenase Deficiency ◽  
Term Survival ◽  
Long Term Survival
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