A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome

Journal of Inherited Metabolic Disease

Volumn 25, Issue 5, 2002, Pages 379-384

  Odievre M H ^a   Lombes A ^b   Dessemme, P ^a   Santer, R ^c   Brivet, M ^d   Chevallier, B ^a   Lagardere B ^a   Odievre M ^e  

^a HÔPITAL AMBROISE PARÉ   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d BICÊTRE HOSPITAL   (France)

^e HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; GLUCOSE TRANSPORTER 2; VITAMIN D;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISORDERS OF CARBOHYDRATE METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FANCONI BICKEL SYNDROME; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; HEPATOMEGALY; HUMAN; MALE; METABOLIC DISORDER; MUSCLE; RESPIRATORY CHAIN; SCHOOL CHILD; VITAMIN D RESISTANT RICKETS;

BIOPSY; CHILD; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX III; FANCONI SYNDROME; GLUCOSE TRANSPORTER TYPE 2; HUMANS; LIVER; MALE; MITOCHONDRIA, MUSCLE; MONOSACCHARIDE TRANSPORT PROTEINS; MUSCLES; NAD(P)H DEHYDROGENASE (QUINONE);

EID: 0036746805     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020147716990     Document Type: Article

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