The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference20 articles.
1. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation
2. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
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4. Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
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1. The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI);Minerva Pediatrics;2023-04
2. Epidemiology of Mucopolysaccharidoses Update;Diagnostics;2021-02-10
3. Precision Medicine for Lysosomal Disorders;Biomolecules;2020-07-26
4. Diagnosis of Mucopolysaccharidoses;Diagnostics;2020-03-22
5. Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses;Expert Review of Molecular Diagnostics;2018-09-26
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