Smith-Lemli-Opitz Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-10-9-11

Smith-Lemli-Opitz Syndrome

Pediatric Neurology Briefs

Volume 10 (1996): Issue 9

By: J Gordon Millichap

Open Access

|Sep 1996

Abstract

Clinical features as specific indicators in the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) and the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening test were examined by an Italian SLOS Collaborative Group of investigators.

References

Guzzetta V De Fabiani E Galli G Colombo C Corso G Lecora M Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group Acta Paediatr 1996 Aug 85 8 937 42 8863875 10.1111/j.1651-2227.1996.tb14190.x
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-10-9-11 | Journal eISSN: 2166-6482

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Language: English

Page range: 71 - 71

Published on: Sep 1, 1996

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Smith-Lemli-Opitz Syndrome,

Ultraviolet Spectrophotometry,

Chromotography/Mass Spectrometry Analysis

© 1996 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 10 (1996): Issue 9