Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

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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.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 1996-09-01
Series:Pediatric Neurology Briefs
Subjects:
smith-lemli-opitz syndrome
ultraviolet spectrophotometry
chromotography/mass spectrometry analysis
Online Access:https://www.pediatricneurologybriefs.com/articles/3723
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spelling doaj-f53ec60598a84109baab00e67ed8cb1d2020-11-25T02:40:12ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64821996-09-01109717110.15844/pedneurbriefs-10-9-113709Smith-Lemli-Opitz SyndromeJ Gordon Millichap0Northwestern University Feinberg School of MedicineClinical 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.https://www.pediatricneurologybriefs.com/articles/3723smith-lemli-opitz syndromeultraviolet spectrophotometrychromotography/mass spectrometry analysis
collection DOAJ
language English
format Article
sources DOAJ
author J Gordon Millichap
spellingShingle J Gordon Millichap
Smith-Lemli-Opitz Syndrome
Pediatric Neurology Briefs
smith-lemli-opitz syndrome
ultraviolet spectrophotometry
chromotography/mass spectrometry analysis
author_facet J Gordon Millichap
author_sort J Gordon Millichap
title Smith-Lemli-Opitz Syndrome
title_short Smith-Lemli-Opitz Syndrome
title_full Smith-Lemli-Opitz Syndrome
title_fullStr Smith-Lemli-Opitz Syndrome
title_full_unstemmed Smith-Lemli-Opitz Syndrome
title_sort smith-lemli-opitz syndrome
publisher Pediatric Neurology Briefs Publishers
series Pediatric Neurology Briefs
issn 1043-3155
2166-6482
publishDate 1996-09-01
description 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.
topic smith-lemli-opitz syndrome
ultraviolet spectrophotometry
chromotography/mass spectrometry analysis
url https://www.pediatricneurologybriefs.com/articles/3723
work_keys_str_mv AT jgordonmillichap smithlemliopitzsyndrome
_version_ 1724782468523884544

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