The national niemann-pick type c1 disease database: Correlation of lipid profi les, mutations, and biochemical phenotypes

Journal of Lipid Research

Volumn 51, Issue 2, 2010, Pages 406-415

  Garver, William S ^a   Jelinek, David ^a   Meaney, F John ^a   Flynn, James ^a   Pettit, Kathleen M ^a   Shepherd, Glen ^b   Heidenreich, Randall A ^c   Walsh Vockley, Cate M ^d   Castro, Graciela ^e   Francis, Gordon A ^a,e  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b Ara Parseghian Medical Research Foundation   (United States)

^c UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e The James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research   (Canada)

Author keywords

Biomarker; High density lipoproteins; Lysosomal storage disease; Plasma lipoproteins

Indexed keywords

ALANINE; CHROMOSOME PROTEIN; CYTOSINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; ISOLEUCINE; LEUCINE; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; NIEMANN PICK CI PROTEIN; PROLINE; THREONINE; TRIACYLGLYCEROL; TYROSINE; UNCLASSIFIED DRUG; VALINE; LIPOPROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DYSLIPIDEMIA; FEMALE; GENE MUTATION; GENETIC DATABASE; HUMAN; LIPID ANALYSIS; MALE; NIEMANN PICK DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; TRIACYLGLYCEROL BLOOD LEVEL; BLOOD; COHORT ANALYSIS; FACTUAL DATABASE; GENETICS; INFANT; LIPID METABOLISM; METABOLISM; MUTATION; PRESCHOOL CHILD; UNITED STATES;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DATABASES, FACTUAL; FEMALE; HUMANS; INFANT; LIPID METABOLISM; LIPOPROTEINS; MALE; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; UNITED STATES; YOUNG ADULT;

EID: 77949537364     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P000331     Document Type: Article

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