Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity-Reference-Cited by-同舟云学术

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity

Published:2004-06 Issue:2 Volume:82 Page:137-143
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kleta Robert,Morse Richard P,Orvisky Eduard,Krasnewich Donna,Alroy Joseph,Ucci Angelo A,Bernardini Isa,Wenger David A,Gahl William A

Publisher

Elsevier BV

Subject

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

Reference23 articles.

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

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

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

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

5. Salla disease: a new lysosomal storage disorder;Aula;Arch. Neurol.,1979

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