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National MPS Society | Researchclopedia

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National MPS Society

Durhamnonprofit

28

Works

347

Citations

11

h-index

Top Research Topics

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Trypanosoma species research and implications

Top Researchers

Steven M. Holland National Institute of Allergy and Infectious Diseases

1,920 works99,245 citationsh-index: 155

Recent Research

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis

Rithika Thampy,Nishitha R. Pillai,et al.

20260 citations

Neurogenetic and Muscular Disorders Research

Metabolism and Genetic Disorders

Family and Disability Support Research

Biomedical Research and Pathophysiology

Neonatal Respiratory Health Research

Cystic Fibrosis Research Advances

Infant Nutrition and Health

Neonatal Health and Biochemistry

Quantum Dots Synthesis And Properties

N. Matthew Ellinwood National MPS Society

123 works2,314 citationsh-index: 26

Mary Cavanagh University of Ottawa

49 works1,580 citationsh-index: 19

12 works197 citationsh-index: 4

14 works114 citationsh-index: 4

9 works105 citationsh-index: 5

Cerebrospinal fluid Heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges

Joseph Muenzer,Mark Dant,et al.

20260 citations

AMCP Market Insights: The role of managed care in improving patient care in mucopolysaccharidoses

Bridget Flavin,Ryan Haumschild,et al.

20260 citations

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Melanie Lacaria,Jennifer L. Goldstein,et al.

20260 citations

Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus

Barbara K. Burton,N. Matthew Ellinwood,et al.

20250 citations

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Terri Klein,J. Bender,et al.

20249 citations