Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease

European Journal of Medical Genetics

Volumn 58, Issue 3, 2015, Pages 180-183

  Villamizar Schiller, Ives T ^a   Pabón, Laudy A ^a   Hufnagel, Sophia B ^b   Serrano, Norma C ^a   Karl, Gabriela ^a   Jefferies, John L ^b   Hopkin, Robert J ^b   Prada, Carlos E ^a,b  

^a FUNDACIÓN CARDIOVASCULAR DE COLOMBIA   (Colombia)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cardiomyopathy; HEXB; Ketogenic diet; Lysosomal storage disease; Substrate reduction therapy

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; MIGLUSTAT; 1 DEOXYNOJIRIMYCIN;

ARTICLE; CASE REPORT; CHILD; DIARRHEA; DRUG DOSE INCREASE; HEART DISEASE; HEART FUNCTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KETOGENIC DIET; LOCOMOTION; MALE; NEUROLOGIC DISEASE; PRESCHOOL CHILD; SANDHOFF DISEASE; SURVIVAL; TREATMENT RESPONSE; ANALOGS AND DERIVATIVES; DIET THERAPY; GENETICS;

1-DEOXYNOJIRIMYCIN; CHILD; CHILD, PRESCHOOL; HUMANS; KETOGENIC DIET; MALE; SANDHOFF DISEASE;

EID: 84924532523     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.12.009     Document Type: Article

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