Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C

Genetics in Medicine

Volumn 3, Issue 5, 2001, Pages 343-348

  Meiner, Vardiella ^a   Shpitzen, Shoshi ^a   Mandel, Hanna ^a   Klar, Aharon ^a   Ben Neriah, Ziva ^a   Zlotogora, Jol ^a   Sagi, Michal ^a   Lossos, Alex ^a   Bargal, Ruth ^a   Sury, Vivy ^a   Carmi, Rivka ^a   Leitersdorf, Eran ^a   Zeigler, Marsha ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Cholesterol esterification; Consanguineous marriage; Lipid storage disease; Mutation analyses; NPC1 gene

Indexed keywords

CHOLESTEROL;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHOLESTEROL ESTERIFICATION; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; FAMILY STUDY; FIBROBLAST CULTURE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HOMEOSTASIS; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; ISRAEL; LIPIDOSIS; LOADING TEST; MOLECULAR DYNAMICS; NEUROLOGIC DISEASE; NEWBORN; NIEMANN PICK DISEASE; ONSET AGE; PATIENT CODING; PHENOTYPE; SEQUENCE ANALYSIS;

EID: 18544363771     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200109000-00003     Document Type: Article

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