Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 4, 2012, Pages 301-321

  Herman, Gail E ^a   Kratz, Lisa ^b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Cholesterol; CK syndrome; Desmosterolosis; Disorder of sterol synthesis; SC4MOL deficiency

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; CHOLESTEROL OXIDASE; LANOSTEROL;

ARTICLE; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CK SYNDROME; CLINICAL FEATURE; DISORDERS OF CHOLESTEROL METABOLISM; ENZYME DEFICIENCY; GENE MUTATION; HEMIZYGOSITY; HUMAN; HYDROPS ECTOPIC CALCIFICATION MOTH EATEN DYSPLASIA; LATHOSTEROLOSIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SESMOSTEROLOSIS; SMITH LEMLI OPITZ SYNDROME; STEROL C4 METHYL OXIDASEN DEFICIENCY; SYNDROME CHILDS;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; HUMANS; LANOSTEROL; LIPID METABOLISM, INBORN ERRORS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; STEROID METABOLISM, INBORN ERRORS;

EID: 84867903419     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31340     Document Type: Article

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