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:2024-09 Issue:1-2 Volume:143 Page:108570
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Funder

National Institutes of Health Clinical Center

National Institute of Mental Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Elsevier BV

Reference37 articles.

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

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

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

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

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

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