研究论文

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Barbara K. Burton, Vera P. Shively, Allegra Quadri, Lauren Warn, Jennifer Kirsty Burton, Dorothy K. Grange, Katherine Christensen, Daniel Groepper 等 11 位

Northwestern University　Lurie Children's Hospital　Illinois College　University of Illinois Chicago

来源Molecular Genetics and Metabolism

年份2023

DOI10.1016/j.ymgme.2023.107557

原文https://doi.org/10.1016/j.ymgme.2023.107557

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逐年被引趋势

630

626

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学术脉络

学科主题

生物医学

Lysosomal Storage Disorders Research

Child Nutrition and Feeding Issues · Trypanosoma species research and implications

参考文献 15

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Akemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki · Molecular Genetics and Metabolism · 2012

被引 147

Cumulative incidence rates of the mucopolysaccharidoses in Germany

Frank Baehner, C. Schmiedeskamp, Frank Krummenauer · Journal of Inherited Metabolic Disease · 2005

被引 397

Incidence of the mucopolysaccharidoses in Western Australia

John W. Nelson, June Crowhurst, Bill Carey · American Journal of Medical Genetics Part A · 2003

被引 230

此处列出前 3 条

引用本文 16

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Bradford L. Therrell, Carmencita D. Padilla, Gustavo Borrajo · International Journal of Neonatal Screening · 2024

被引 142

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses

Joseph Muenzer, Carole Ho, Heather Lau · Molecular Genetics and Metabolism · 2024

被引 20

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II

Joseph A. Muenzer, Barbara K. Burton, Paul R. Harmatz · New England Journal of Medicine · 2025

被引 18

按被引量排序，此处列出前 3 条