Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

1994 ◽  
Vol 17 (3) ◽  
pp. 301-303 ◽  
Author(s):  
B. Garavaglia ◽  
V. Colamaria ◽  
F. Carrara ◽  
P. Tonin ◽  
M. Rimoldi ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency ◽  
Ethylmalonic Aciduria

Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency

1994 ◽  
Vol 153 (2) ◽  
pp. 133-135 ◽  
Author(s):  
B. Chabrol ◽  
J. Mancini ◽  
D. Chretien ◽  
P. Rustin ◽  
A. Munnich ◽  
...  
Keyword(s):  
Hepatic Failure ◽  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency

Segmental cytochromec-oxidase deficiency in CPEO: Teased muscle fiber analysis

1992 ◽  
Vol 15 (2) ◽  
pp. 209-213 ◽  
Author(s):  
Taro Matsuoka ◽  
Yu-Ichi Goto ◽  
Hitomi Hasegawa ◽  
Ikuya Nonaka
Keyword(s):  
Muscle Fiber ◽  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Fiber Analysis ◽  
Cytochromec Oxidase Deficiency

Valproate and cytochromec oxidase deficiency

1995 ◽  
Vol 154 (1) ◽  
pp. 79-79 ◽  
Author(s):  
Sylvie Ponchaut ◽  
François Van Hoof ◽  
Keith Veitch
Keyword(s):  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency

Cytochromec oxidase deficiency in infancy

1989 ◽  
Vol 77 (3) ◽  
pp. 267-275 ◽  
Author(s):  
A. Oldfors ◽  
H. Sommerland ◽  
E. Holme ◽  
M. Tulinius ◽  
B. Kristiansson
Keyword(s):  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

1997 ◽  
Vol 41 (2) ◽  
pp. 268-270 ◽  
Author(s):  
Paula L. Adams ◽  
Robert N. Lightowlers ◽  
Douglass M. Turnbull
Keyword(s):  
Molecular Analysis ◽  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Leigh’S Syndrome ◽  
Cytochromec Oxidase Deficiency

Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn

1996 ◽  
Vol 19 (3) ◽  
pp. 286-295 ◽  
Author(s):  
A. Lombes ◽  
N. B. Romero ◽  
G. Touati ◽  
P. Frachon ◽  
M. A. Cheval ◽  
...  
Keyword(s):  
Cytochromec Oxidase ◽  
Molecular Heterogeneity ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency

Two siblings with cytochromec oxidase deficiency

1983 ◽  
Vol 6 (3) ◽  
pp. 121-122 ◽  
Author(s):  
S. Miyabayashi ◽  
K. Narisawa ◽  
K. Tada ◽  
K. Sakai ◽  
K. Kobayashi ◽  
...  
Keyword(s):  
Cytochromec Oxidase ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency

Cytochromec oxidase deficiency in leigh syndrome

1987 ◽  
Vol 22 (4) ◽  
pp. 498-506 ◽  
Author(s):  
Salvatore DiMauro ◽  
Serenella Servidei ◽  
Massimo Zeviani ◽  
Maja DiRocco ◽  
Darryl C. DeVivo ◽  
...  
Keyword(s):  
Cytochromec Oxidase ◽  
Leigh Syndrome ◽  
Oxidase Deficiency ◽  
Cytochromec Oxidase Deficiency
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