Newborn screening in mucopolysaccharidoses
Abstract Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in th...
Main Authors: | Maria Alice Donati, Elisabetta Pasquini, Marco Spada, Giulia Polo, Alberto Burlina |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2018-11-01
|
Series: | Italian Journal of Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13052-018-0552-3 |
Similar Items
-
Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses
by: Rajendra Singh, et al.
Published: (2020-05-01) -
Glaucoma in mucopolysaccharidoses
by: Weijing Kong, et al.
Published: (2021-07-01) -
Pathogenesis of Mucopolysaccharidoses, an Update
by: Simona Fecarotta, et al.
Published: (2020-04-01) -
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis
by: Chih-Kuang Chuang, et al.
Published: (2021-08-01) -
Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy
by: Valeria De Pasquale, et al.
Published: (2020-04-01)