Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 161-169

  Pindolia, Kirit ^a,b   Jordan, Megan ^a   Guo, Caiying ^c   Matthews, Nell ^d   Mock, Donald M ^d   Strovel, Erin ^e   Blitzer, Miriam ^e   Wolf, Barry ^a,b  

^a HENRY FORD HOSPITAL   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^e UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

Animal model; Biotin; Biotin responsive disorders; Biotinidase deficiency; Carboxylase deficiency; Knockout mouse; Metabolic disorders; Multiple carboxylase deficiency; Transgenic

Indexed keywords

3 HYDROXYISOVALERIC ACID; BIOTIN; BIOTINIDASE; ISOVALERIC ACID; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOTINIDASE DEFICIENCY; CONTROLLED STUDY; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVITY; HYPERAMMONEMIA; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; NULL ALLELE; PATHOPHYSIOLOGY; PHAKOMATOSIS; PRIORITY JOURNAL; SKIN DISEASE; TRANSGENIC MOUSE; URINARY EXCRETION; VITAMIN SUPPLEMENTATION;

ANIMALS; BEHAVIOR, ANIMAL; BIOTIN; BIOTINIDASE; BIOTINIDASE DEFICIENCY; BODY WEIGHT; DIET; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; LIVER; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NEUROCUTANEOUS SYNDROMES; VITAMIN B COMPLEX;

ANIMALIA; MUS;

EID: 78651465126     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.10.005     Document Type: Article

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