A case of Smith-Lemli-Opitz syndrome, defect of cholesterol biosynthesis

International Journal of Immunopathology and Pharmacology

Volumn 19, Issue 2, 2006, Pages 439-442

  Domizio, S ^a   Pallotta, R ^a,b   Romanelli, A ^a   Puglielli, C ^a   Pollice, R ^c   Casacchia, M ^c   Conte, E ^a   Domizio, R ^a   Sabatino, Giuseppe ^a  

^a UNIVERSITY OF CHIETI   (Italy)

^b UNIVERSITY OF L'AQUILA   (Italy)

^c Ospedale Policlinico ^*

Author keywords

Growth deficiency; Inborn defects of cholesterol biosynthesis; Multiple malformations; Smith Lemli Opitz Syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; STEROL;

ABNORMALLY HIGH SUBSTRATE CONCENTRATION IN BLOOD; ANAMNESIS; APGAR SCORE; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MALFORMATION; CORRELATION ANALYSIS; DYSPHAGIA; FAILURE TO THRIVE; FEMALE; HUMAN; HYPERTRANSAMINASEMIA; INFANT; INTRAUTERINE GROWTH RETARDATION; LABORATORY TEST; MICROCEPHALY; NEWBORN INTENSIVE CARE; PREGNANCY; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; SUCKING; SYNDACTYLY;

EID: 33746790647     PISSN: 03946320     EISSN: None     Source Type: Journal    
DOI: 10.1177/039463200601900220     Document Type: Article

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