Metabolic phenotype of methylmalonic acidemia in mice and humans: The role of skeletal muscle

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Chandler, Randy J ^a   Sloan, Jennifer ^a   Fu, Hong ^b   Tsai, Matthew ^a   Stabler, Sally ^c   Allen, Robert ^c   Kaestner, Klaus H ^b   Kazazian, Haig H ^b   Venditti, Charles P ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN; CASE REPORT; CONTROLLED STUDY; DIET THERAPY; DISEASE MODEL; EMBRYO; ENZYME ANALYSIS; FEMALE; GENE LOCUS; HOMEOSTASIS; HUMAN; KIDNEY FUNCTION; KIDNEY GRAFT; KIDNEY TRANSPLANTATION; KNOCKOUT MOUSE; LIVER GRAFT; LIVER TRANSPLANTATION; METABOLIC CAPACITY; METHYLMALONIC ACIDEMIA; METHYLMALONIC ACIDURIA; MOUSE; MUSCLE METABOLISM; NEWBORN; NONHUMAN; NORTHERN BLOTTING; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN RESTRICTION; SKELETAL MUSCLE; WESTERN BLOTTING; ANIMAL; BLOOD; FIBROBLAST; GENETICS; GLOMERULUS FILTRATION RATE; KIDNEY DISEASE; MALE; METABOLISM; MOUSE MUTANT; MUTATION; PHYSIOLOGY;

MURINAE; MUS;

ADULT; ANIMALS; ANIMALS, NEWBORN; BLOTTING, NORTHERN; BLOTTING, WESTERN; DISEASE MODELS, ANIMAL; FEMALE; FIBROBLASTS; GLOMERULAR FILTRATION RATE; HUMANS; KIDNEY DISEASES; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MICE; MICE, KNOCKOUT; MUSCLE, SKELETAL; MUTATION; PHENOTYPE;

EID: 37449007268     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-64     Document Type: Article

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