Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs-Reference-Cited by-同舟云学术

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Published:2017-03-29 Issue:2 Volume:3 Page:6
ISSN:2409-515X
Container-title:International Journal of Neonatal Screening
language:en
Short-container-title:IJNS

Author:

Schielen Peter,Kemper Evelien,Gelb Michael

Publisher

MDPI AG

Subject

Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health

Link

http://www.mdpi.com/2409-515X/3/2/6/pdf

Reference58 articles.

1. Lysosomal Storage Diseases: From Pathophysiology to Therapy

2. Lysosomal storage diseases—the horizon expands

3. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

4. Emerging therapies for neuropathic lysosomal storage disorders

5. Enzyme replacement therapy for lysosomal storage diseases

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1. Developing a scoring system for gene curation prioritization in lysosomal diseases;Molecular Genetics and Metabolism;2024-09

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4. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study;International Journal of Molecular Sciences;2022-12-08

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