Clinical features and ETFDH mutation spectrum in a cohort of 90 chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 37, Issue 3, 2014, Pages 399-404

  Xi, Jianying ^a   Wen, Bing ^b,c   Lin, Jie ^a   Zhu, Wenhua ^a   Luo, Sushan ^a   Zhao, Chongbo ^a   Li, Duoling ^b,c   Lin, Pengfei ^b,c   Lu, Jiahong ^a   Yan, Chuanzhu ^a,c  

^a FUDAN UNIVERSITY   (China)

^b SHANDONG UNIVERSITY   (China)

^c SHANDONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CREATINE KINASE; ELECTRON TRANSFERRING FLAVOPROTEIN; ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE; OXIDOREDUCTASE; RIBOFLAVIN; STEROID; UBIDECARENONE; UNCLASSIFIED DRUG; ELECTRON-TRANSFERRING-FLAVOPROTEIN DEHYDROGENASE; IRON SULFUR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC ERROR; DIASTOLIC DYSFUNCTION; DRUG TREATMENT FAILURE; DYSPNEA; ELECTROMYOGRAPHY; FATTY LIVER; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HEART PALPITATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MUTATION RATE; MYOSITIS; NUCLEOTIDE SEQUENCE; RESPIRATORY FAILURE; RHABDOMYOLYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID THERAPY; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ELECTRON-TRANSFERRING FLAVOPROTEINS; FEMALE; HAPLOTYPES; HUMANS; IRON-SULFUR PROTEINS; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 84904179705     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9671-6     Document Type: Article

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