Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States-Reference-Cited by-同舟云学术

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States

Published:2023-02 Issue:2 Volume:25 Page:100330
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Ream Margie A.^ORCID,Lam Wendy K.K.,Grosse Scott D.,Ojodu Jelili,Jones Elizabeth,Prosser Lisa A.,Rosé Angela M.,Comeau Anne Marie,Tanksley Susan,Powell Cynthia M.,Kemper Alex R.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference37 articles.

1. Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation;Sukegawa;Clin Genet,1998

2. Epidemiology of mucopolysaccharidoses update;Çelik;Diagnostics (Basel),2021

3. Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities;Puckett;Orphanet J Rare Dis,2021

4. Validation and implementation of a highly sensitive and efficient newborn screening assay for mucopolysaccharidosis type II;Bilyeu;Int J Neonatal Screen,2020

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1. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

2. Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses;Orphanet Journal of Rare Diseases;2024-04-29

3. Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan;Orphanet Journal of Rare Diseases;2024-03-07

4. Caregiver Perspectives on Patients with Mucopolysaccharidosis II Treated with Pabinafusp Alfa: Results of Qualitative Interviews in Japan;2023-09-01

5. Secondary Findings of Newborn Screening;OBM Genetics;2023-08-31