Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts-Reference-Cited by-同舟云学术

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

Published:1995-04 Issue:1 Volume:236 Page:45-58
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Kelley Richard I.

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference16 articles.

1. A newly recognized syndrome of multiple congenital abnormalities;Smith;J Pediatr,1964

2. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality;Curry;Am J Med Genet,1987

3. The nosology of the Smith-Lemli-Opitz Syndrome;Penchaszadeh;Am J Med Genet,1987

4. Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia

5. Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents;Chasalow;Steroids,1985

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