Improved diagnostic procedures in attenuated mucopolysaccharidosis-Reference-Cited by-同舟云学术

Improved diagnostic procedures in attenuated mucopolysaccharidosis

Published:2011-02 Issue:2 Volume:72 Page:91-95
ISSN:1750-8460
Container-title:British Journal of Hospital Medicine
language:en
Short-container-title:British Journal of Hospital Medicine

Author:

Hendriksz Dr Chris¹

Affiliation:

1. Dr Chris Hendriksz is Consultant in Clinical Inherited Metabolic Disorders in the Department of Inherited Metabolic Disorders, Birmingham Children’s Hospital, NHS Foundation Trust, Birmingham B4 6NH

Publisher

Mark Allen Group

Subject

General Medicine

Link

http://www.magonlinelibrary.com/doi/pdf/10.12968/hmed.2011.72.2.91

Reference16 articles.

1. Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry

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

3. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene

4. Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase

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1. Perthes-Like Disease Masquerading Non-Classical MPS;Journal of Inborn Errors of Metabolism and Screening;2020

2. Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion;European Journal of Pediatrics;2019-02-11

3. Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology;JIMD Reports;2015

4. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose;Skeletal Radiology;2014-01-04

5. The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood;Canadian Journal of Ophthalmology;2013-12