Severe lysosomal storage disease of liver in del(1)(p36): A new presentation

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 209-213

  Haimi, Motti ^a   Iancu, Theodore C ^c,d   Shaffer, Lisa G ^e   Lerner, Aaron ^b,d  

^a CLALIT HEALTH SERVICES   (Israel)

^b CARMEL MEDICAL CENTER   (Israel)

^c Pediatric Research and Electron Microscopy Unit   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e PerkinElmer   (United States)

Author keywords

Hyperphagia; Lipid storage disease; Lipolysosomes; Liver; Monosomy 1p36

Indexed keywords

AMINOTRANSFERASE; LIPOFUSCIN; OLIGONUCLEOTIDE;

AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; ELECTRON MICROSCOPY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYPERPHAGIA; INCREASED APPETITE; LIVER BIOPSY; LIVER DISEASE; LIVER STRUCTURE; LOW FAT DIET; LYSOSOME STORAGE DISEASE; MICROARRAY ANALYSIS; OBESITY; SCHOOL CHILD; STEATOSIS; TERATOLOGY;

CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; FATTY LIVER; FEMALE; HEPATOCYTES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIPOFUSCIN; LYSOSOMES; MICROSCOPY, ELECTRON; OBESITY; SYNDROME;

EID: 79955466098     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.11.012     Document Type: Article

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