Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith-Lemli-Opitz syndrome

Expert Opinion on Orphan Drugs

Volumn 3, Issue 3, 2015, Pages 267-280

  Bianconi, Simona E ^a   Cross, Joanna L ^a   Wassif, Christopher A ^a   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

7 dehydrocholesterol reductase; Cholesterol metabolism; Congenital malformation syndrome; Inborn error of metabolism; Malformation syndrome; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; ALPHA TOCOPHEROL; ANTIOXIDANT; ASCORBIC ACID; BILE ACID; CHOLESTEROL; FRESH FROZEN PLASMA; HORMONE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MYELIN; OXYSTEROL; PLACEBO; RETINOL; SEROTONIN; SIMVASTATIN; SONIC HEDGEHOG PROTEIN; STEROID; UBIDECARENONE; VITAMIN D;

ADRENAL INSUFFICIENCY; ADULT; AQUEOUS SOLUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL DIET; CHOLESTEROL METABOLISM; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DIET SUPPLEMENTATION; DRUG WITHDRAWAL; EGG YOLK; FETUS; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC COUNSELING; HIGH RISK PREGNANCY; HORMONE SUBSTITUTION; HUMAN; INBORN ERROR OF STEROID METABOLISM; INFANT; INTRAUTERINE GROWTH RETARDATION; LIPID RAFT; LIVER DISEASE; LIVER DYSFUNCTION; MEDICAL SPECIALIST; MENTAL HEALTH CARE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NEWBORN SCREENING; NUTRITIONAL SUPPORT; PATHOPHYSIOLOGY; PATIENT CARE; PATIENT REFERRAL; PHENOTYPE; POWDER; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 84923557176     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2015.1014472     Document Type: Article

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