A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease-Reference-Cited by-同舟云学术

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease

Published:2017-09 Issue: Volume:74 Page:87-91.e2
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Barmherzig Rebecca^ORCID,Bullivant Garrett,Cordeiro Dawn,Sinasac David S.^ORCID,Blaser Susan^ORCID,Mercimek-Mahmutoglu Saadet

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference32 articles.

1. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases;Verheijen;Nat Genet,1999

2. “Salla disease”: a new lysosomal storage disorder;Aula;Arch Neurol,1979

3. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation;Aula;Am J Hum Genet,2000

4. Lysosomal free sialic storage disorders with different phenotypic presentations—infantile form sialic storage disease and Salla disease—represent allelic disorders on 6q14-15;Schleutker;Am J Hum Genet,1995

5. Free Sialic Acid Storage Disorders;Adams,1993

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