scholarly journals Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

1998 ◽  
Vol 63 (6) ◽  
pp. 1609-1621 ◽  
Author(s):  
Valeria Tiranti ◽  
Konstanze Hoertnagel ◽  
Rosalba Carrozzo ◽  
Claudia Galimberti ◽  
Monica Munaro ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency

Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency

2001 ◽  
Vol 16 (8) ◽  
pp. 608-613 ◽  
Author(s):  
Salvatore Savasta ◽  
Giacomo P. Comi ◽  
Maria P. Perini ◽  
Assuero Lupi ◽  
Sandra Strazzer ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Biochemical Study ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

2002 ◽  
Vol 17 (3) ◽  
pp. 233-236 ◽  
Author(s):  
Claudio Bruno ◽  
Roberta Biancheri ◽  
Barbara Garavaglia ◽  
Claudia Biedi ◽  
Andrea Rossi ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Novel Mutation ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations

2005 ◽  
Vol 20 (8) ◽  
pp. 670-674 ◽  
Author(s):  
Stacey K.H. Tay ◽  
Sabrina Sacconi ◽  
H. Ohran Akman ◽  
Judith F. Morales ◽  
Augusto Morales ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Gene Mutations ◽  
Oxidase Deficiency ◽  
Leigh Disease ◽  
Cytochrome C Oxidase Deficiency ◽  
Clinical Presentations

scholarly journals The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

2010 ◽  
Vol 1797 ◽  
pp. 52
Author(s):  
Sylwia Łuczak ◽  
Dorota Piekutowska-Abramczuk ◽  
Paweł Kowalski ◽  
Elżbieta Ciara ◽  
Dorota Jurkiewicz ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Features ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

Successful treatment of heart failure with enoximone in a patient with cytochrome c oxidase deficiency

1996 ◽  
Vol 155 (6) ◽  
pp. 525-525 ◽  
Author(s):  
A. Timnik ◽  
S. Mühlbauer ◽  
A. Merkenschlager ◽  
K. Reiter ◽  
W. Lindner ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Successful Treatment ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Cytochrome c Oxidase Deficiency in Human Posterior Cricoarytenoid Muscle

2011 ◽  
Vol 25 (4) ◽  
pp. 387-394 ◽  
Author(s):  
Cari M. Tellis ◽  
Clark Rosen ◽  
John M. Close ◽  
Michael Horton ◽  
J. Scott Yaruss ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Posterior Cricoarytenoid Muscle ◽  
Posterior Cricoarytenoid

scholarly journals OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

2010 ◽  
Vol 19 (15) ◽  
pp. 3043-3052 ◽  
Author(s):  
Patrick Yu-Wai-Man ◽  
Kamil S. Sitarz ◽  
David C. Samuels ◽  
Philip G. Griffiths ◽  
Amy K. Reeve ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Wild Type ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
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