Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

Journal of Inherited Metabolic Disease

Volumn 33, Issue 4, 2010, Pages 437-443

  Niu, Dau Ming ^a,b   Chong, Kah Wai ^a   Hsu, Ju Hui ^b   Wu, Tina Jui Ting ^b   Yu, Hsiao Chi ^b   Huang, Cheng Hung ^b   Lo, Ming Yu ^b   Kwok, Ching Fai ^b   Kratz, Lisa E ^c   Ho, Low Tone ^b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATORVASTATIN; CHOLESTEROL; COLESTYRAMINE; EZETIMIBE; GENE PRODUCT; PHYTOSTEROL; PROTEIN ABCG5; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCG5 PROTEIN, HUMAN; AZETIDINE DERIVATIVE; HYPOCHOLESTEROLEMIC AGENT; LIPOPROTEIN; SITOSTEROL DERIVATIVE;

ALLELE; ARTICLE; BREAST FEEDING; CHILD; CHINESE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL OBSERVATION; DRUG DOSE INCREASE; DRUG RESPONSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; HUMAN; INFANT; MOLECULAR GENETICS; PATIENT COMPLIANCE; PRESCHOOL CHILD; SCHOOL CHILD; SITOSTEROLEMIA; TREATMENT FAILURE; TREATMENT OUTCOME; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CASE REPORT; ETHNOLOGY; GENETIC SCREENING; GENETICS; METABOLISM, INBORN ERRORS; NUCLEOTIDE SEQUENCE; POINT MUTATION;

ANTICHOLESTEREMIC AGENTS; ASIAN CONTINENTAL ANCESTRY GROUP; ATP-BINDING CASSETTE TRANSPORTERS; AZETIDINES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HUMANS; INFANT; LIPOPROTEINS; METABOLISM, INBORN ERRORS; POINT MUTATION; SITOSTEROLS;

EID: 77956063775     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9126-2     Document Type: Article

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