Brown-Vialetto-Van Laere and Fazio Londe syndromes: Defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD): See original article DOI 10.1007/s10545-012-9513-y

Journal of Inherited Metabolic Disease

Volumn 35, Issue 6, 2012, Pages 941-942

  Bennett, Michael J ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; ACYLCARNITINE; ADIPIC ACID; CARRIER PROTEIN; METHYLMALONIC ACID; RIBOFLAVIN; RIBOFLAVIN TRANSPORTER 1; RIBOFLAVIN TRANSPORTER 2; UNCLASSIFIED DRUG;

ACIDURIA; BROWN VIALETTO VAN LAERE SYNDROME; DRUG MEGADOSE; EDITORIAL; ELECTRON TRANSPORT; FAZIO LONDE DISEASE; GENE; HAPLOINSUFFICIENCY; HUMAN; INTESTINE EPITHELIUM CELL; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PERCEPTION DEAFNESS; RIBOFLAVIN DEFICIENCY; SLC52A1 GENE; SLC52A3 GENE;

BULBAR PALSY, PROGRESSIVE; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MUTATION, MISSENSE; RECEPTORS, G-PROTEIN-COUPLED; RIBOFLAVIN;

EID: 84867858847     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9519-5     Document Type: Editorial

References (11)

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