18‐year follow‐up of enzyme‐replacement therapy in two siblings with attenuated mucopolysaccharidosis I-Reference-Cited by-同舟云学术

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18‐year follow‐up of enzyme‐replacement therapy in two siblings with attenuated mucopolysaccharidosis I

Published:2022-11-05 Issue:2 Volume:191 Page:564-569
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Pjetraj Dorina¹,Santoro Lucia¹^ORCID,Sgattoni Claudia²,Padella Lucia¹,Zampini Lucia¹,Monachesi Chiara¹,Gabrielli Orazio¹,Catassi Carlo¹

Affiliation:

1. Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi Ancona Italy

2. Medical Genetics and Rare Disease Coordination Institute of Maternal‐Infantile Sciences, Ospedali Riuniti, Presidio Torrette Ancona Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63029

Reference19 articles.

1. Cardiac Findings After Enzyme Replacement Therapy for Mucopolysaccharidosis Type I

2. Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

3. Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up

4. 12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

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1. Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots;JIMD Reports;2024-02-19

2. Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy;International Journal of Neonatal Screening;2023-12-25

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