Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders-Reference-Cited by-同舟云学术

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Published:2014 Issue:1 Volume:9 Page:59
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Fernández-Marmiesse Ana,Morey Marcos,Pineda Merce,Eiris Jesús,Couce Maria,Castro-Gago Manuel,Fraga Jose,Lacerda Lucia,Gouveia Sofia,Pérez-Poyato Maria,Armstrong Judith,Castiñeiras Daisy,Cocho Jose A

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference27 articles.

1. Screening for lysosomal storage disorders—A clinical perspective

2. Lysosomal Storage Disorders in the Newborn

3. Lysosomal disorders

4. Lysosomal storage disorders

5. Digenic inheritance in medical genetics

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