Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

Molecular Genetics and Metabolism

Volumn 105, Issue 3, 2012, Pages 450-456

  Fasano, Tommaso ^a   Pisciotta, Livia ^b   Bocchi, Letizia ^a   Guardamagna, Ornella ^c   Assandro, Paola ^c   Rabacchi, Claudio ^a   Zanoni, Paolo ^a   Filocamo, Mirella ^d   Bertolini, Stefano ^b   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d G GASLINI INSTITUTE   (Italy)

Author keywords

Cholesteryl ester storage disease; LIPA gene; Lysosomal acid lipase; Wolman Disease

Indexed keywords

ACID LIPASE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; MESSENGER RNA; TRIACYLGLYCEROL;

ABDOMINAL DISTENSION; ABDOMINAL RADIOGRAPHY; ANEMIA; ARTICLE; BLOOD SMEAR; BONE MARROW BIOPSY; CELL VACUOLE; CHILD; CHOLESTEROL ESTER STORAGE DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DIARRHEA; ENZYME ACTIVITY; EXON; FEMALE; FIBROBLAST; FOAM CELL; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HAPLOTYPE; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HISTIOCYTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; HYPERLIPIDEMIA; HYPOALBUMINEMIA; INFANT; LIPID STORAGE; LIVER BIOPSY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; STEATORRHEA; WOLMAN DISEASE;

ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHOLESTEROL ESTER STORAGE DISEASE; FEMALE; HUMANS; INFANT; LYSOSOMES; MALE; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; STEROL ESTERASE; WOLMAN DISEASE; YOUNG ADULT;

EID: 84858293651     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.008     Document Type: Article

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