Sterol profiles in plasma and erythrocyte membranes in patients with Smith-Lemli-Opitz syndrome: A six-year experience

Clinical Chemistry and Laboratory Medicine

Volumn 49, Issue 12, 2011, Pages 2039-2046

  Corso, Gaetano ^a,b   Gelzo, Monica ^a   Barone, Rosalba ^a   Clericuzio, Stefano ^a   Pianese, Pierluigi ^a   Nappi, Angela ^a   Russo, Antonio Dello ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

Author keywords

7 dehydrocholesterol; Cholesterol; Multiple malformations; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CAMPESTEROL; LATHOSTEROL; SITOSTEROL; STEROL; STIGMASTEROL;

ADULT; ARTICLE; CELL MEMBRANE; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL ASSESSMENT; ERYTHROCYTE MEMBRANE; FEMALE; FOLLOW UP; HUMAN; HUMAN CELL; LIPID STORAGE; MAJOR CLINICAL STUDY; MALE; MASS FRAGMENTOGRAPHY; PRIORITY JOURNAL; REFERENCE VALUE; SMITH LEMLI OPITZ SYNDROME; STEROL ANALYSIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; DEHYDROCHOLESTEROLS; ERYTHROCYTE MEMBRANE; FEMALE; FOLLOW-UP STUDIES; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENETIC DISEASES, X-LINKED; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; SMITH-LEMLI-OPITZ SYNDROME; YOUNG ADULT;

EID: 84355161863     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2011.689     Document Type: Article

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