A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred-Reference-Cited by-同舟云学术

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A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred

Published:2004-06 Issue:2 Volume:82 Page:167-172
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Landau D,Cohen D,Shalev H,Pinsk V,Yerushalmi B,Zeigler M,Birk O.S

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

1. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease;Renlund;Science,1986

2. Disorders of free sialic acid storage;Aula,2001

3. Infantile sialic acid storage disease: biochemical studies;Berra;Am. J. Med. Genet.,1995

4. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients;Hale;Pediatr. Pathol. Lab. Med.,1995

5. Clinical spectrum of infantile free sialic acid storage disease;Lemyre;Am. J. Med. Genet.,1999

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease;Human Genetics and Genomics Advances;2021-07

2. Free sialic acid storage disorder: Progress and promise;Neuroscience Letters;2021-06

3. Infantile free sialic acid storage disease presenting as non-immune hydrops fetalis;J PEDIATR NEONATAL I;2019

4. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease;Pediatric Neurology;2017-09

5. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease;Orphanet Journal of Rare Diseases;2017-02-10

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