Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Journal of Lipid Research

Volumn 40, Issue 2, 1999, Pages 221-228

  Lohse, Peter ^a   Maas, Sylke ^a   Lohse, Pia ^a   Sewell, Adrian C ^b   Van Diggelen, Otto P ^c   Seidel, Dietrich ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Enzyme deficiency; Genotype; Lipid metabolism; Lysosomal acid lipase; Mutation analysis

Indexed keywords

ACID LIPASE; ALANINE AMINOTRANSFERASE; AMINO ACID; AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CHOLESTEROL ESTER; CHOLESTEROL ESTERASE; DNA; GLYCINE; LIPID; LIPOPROTEIN; RNA; TRIACYLGLYCEROL; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CERCOPITHECIDAE; CHOLESTEROL ESTER STORAGE DISEASE; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; INFANT; LIPID METABOLISM; NEWBORN; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; WOLMAN DISEASE; ALLELE; AMINO ACID SEQUENCE; ANIMAL; CASE REPORT; CELL CULTURE; CELL STRAIN COS1; CHEMISTRY; CYTOLOGY; ENZYMOLOGY; EXON; FIBROBLAST; GENETICS; INTRON; METABOLISM; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; SKIN;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CHOLESTEROL ESTER STORAGE DISEASE; CHOLESTEROL ESTERASE; COS CELLS; EXONS; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MUTAGENESIS, SITE-DIRECTED; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; SKIN; WOLMAN DISEASE;

EID: 0032905861     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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