Spectrum of combined respiratory chain defects

Journal of Inherited Metabolic Disease

Volumn 38, Issue 4, 2015, Pages 629-640

  Mayr, Johannes A ^a   Haack, Tobias B ^b,c   Freisinger, Peter ^d   Karall, Daniela ^e   Makowski, Christine ^c   Koch, Johannes ^a   Feichtinger, René G ^a   Zimmermann, Franz A ^a   Rolinski, Boris ^f   Ahting, Uwe ^c   Meitinger, Thomas ^b,c   Prokisch, Holger ^b,c   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d Department of Paediatrics Kreisklinikum Reutlingen ^*  (Germany)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f Elblandkliniken   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME A; CYTOCHROME B; CYTOCHROME C; CYTOCHROME C OXIDASE; IRON SULFUR PROTEIN; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RNA; UBIQUINONE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; COENZYME Q DEFICIENCY; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; ENZYME DEFECT; HOMEOSTASIS; HUMAN; KIDNEY DISEASE; LEIGH DISEASE; LIVER DISEASE; MACROCYTIC ANEMIA; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRION; NEUTROPENIA; NONHUMAN; OXIDATIVE PHOSPHORYLATION; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PROTEIN SYNTHESIS; RESPIRATORY CHAIN; RNA PROCESSING; RNA TRANSLATION; SIDEROBLASTIC ANEMIA; ENERGY METABOLISM; GENETICS;

ENERGY METABOLISM; HUMANS; MITOCHONDRIAL DISEASES; OXIDATIVE PHOSPHORYLATION;

EID: 84937251595     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-015-9831-y     Document Type: Article

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