Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms-Reference-Cited by-同舟云学术

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

Published:2020-02-10 Issue:1 Volume:52 Page:35-42
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Langan Thomas J.¹^ORCID,Jalal Kabir²,Barczykowski Amy L.²^ORCID,Carter Randy L.²,Stapleton Molly³⁴,Orii Kenji⁵,Fukao Toshiyuki⁵,Kobayashi Hironori⁶,Yamaguchi Seiji⁶,Tomatsu Shunji³⁴⁵⁶⁷

Affiliation:

1. Department of Neurology, School of Medicine and Biomedical Sciences University at Buffalo Buffalo New York

2. Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions University at Buffalo Buffalo New York

3. Skeletal Dysplasia Research Lab, Nemours/Alfred I. DuPont Hospital for Children Wilmington Delaware

4. Department of Biological Sciences University of Delaware Newark Delaware

5. Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan

6. Department of Pediatrics Shimane University Shimane Japan

7. Department of Pediatrics Thomas Jefferson University Philadelphia Pennsylvania

Funder

National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12093

Reference35 articles.

1. The clinical spectrum of α-L-iduronidase deficiency

2. Clinical presentation and diagnosis of mucopolysaccharidoses

3. Newborn screening and diagnosis of mucopolysaccharidoses

4. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

5. Enzyme-Replacement Therapy in Mucopolysaccharidosis I

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1. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease;International Journal of Neonatal Screening;2022-11-15

2. Newborn screening of mucopolysaccharidosis type I;Critical Reviews in Clinical Laboratory Sciences;2022-01-17

3. Lysosomal storage diseases: mucopolysaccharidosis type I and II;Pediatrician (St. Petersburg);2021-10-13

4. Congenital metabolic diseases. Lysosomal storage diseases;Pediatrician (St. Petersburg);2021-08-11

5. The future of newborn screening for lysosomal disorders;Neuroscience Letters;2021-08