Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome-Reference-Cited by-同舟云学术

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Elevated Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Smith-Lemli-Opitz Syndrome

Published:2024 Issue: Volume: Page:
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Author:

Luke Rachel A.,Cawley Niamh X.,Rahal Samar,Selvaraman Aishwarya,Thurm Audrey,Wassif Christopher A.,Porter Forbes Denny

Publisher

Elsevier BV

Reference37 articles.

1. A Newly Recognized Syndrome of Multiple Congenital Anomalies;D W Smith;J Pediatr,1964

2. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets;J L Cross;Clin Genet,2015

3. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations;E Ciara;Eur J Med Genet,2006

4. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome;B U Fitzky;Proc Natl Acad Sci,1998

5. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome;M Irons;Lancet,1993

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