Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Wolfe, Lynne A ^a,b   He, Miao ^c   Vockley, Jerry ^a,d,e   Payne, Nicole ^a   Rhead, William ^f   Hoppel, Charles ^g   Spector, Elaine ^h   Gernert, Kim ^c   Gibson, K Michael ^a,d,e,i  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^f MEDICAL COLLEGE OF WISCONSIN   (United States)

^g CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UCD DNA Diagnostic Laboratory   (United States)

ⁱ MICHIGAN TECHNOLOGICAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; ELECTRON-TRANSFERRING-FLAVOPROTEIN DEHYDROGENASE; IRON SULFUR PROTEIN; OXIDOREDUCTASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE; PROTEIN BINDING;

ARTICLE; BLOOD; CASE REPORT; CHEMISTRY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYMOLOGY; EXON; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; LIVER; MALE; METABOLISM; MOLECULAR DOCKING; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN BINDING; PROTEIN CONFORMATION; SKELETAL MUSCLE; URINE; YOUNG ADULT; DEFICIENCY; DNA MUTATIONAL ANALYSIS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

BIOLOGICAL MARKERS; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX II; ELECTRON TRANSPORT COMPLEX III; ELECTRON-TRANSFERRING FLAVOPROTEINS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; IRON-SULFUR PROTEINS; LIVER; MALE; METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MOLECULAR DOCKING SIMULATION; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUSCLE, SKELETAL; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; PROTEIN BINDING; PROTEIN CONFORMATION; YOUNG ADULT; BIOMARKERS;

EID: 84897954933     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9246-8     Document Type: Article

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