The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I-Reference-Cited by-同舟云学术

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Published:2007-05 Issue:1 Volume:91 Page:37-47
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pastores Gregory M.,Arn Pamela,Beck Michael,Clarke Joe T.R.,Guffon Nathalie,Kaplan Paige,Muenzer Joseph,Norato Denise Y.J.,Shapiro Elsa,Thomas Janet,Viskochil David,Wraith J. Edmond

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. Comparison of outcomes research with clinical trials using preexisting data;Canto;Am. J. Cardiol.,1999

2. Bridging regional and global perspectives;Heufelder;Horm. Res.,2004

3. The mucopolysaccharidoses;Neufeld,2001

4. Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature;Terlato;Genet. Med.,2003

5. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications;Scott;Hum. Mutat.,1995

Cited by 163 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration;International Journal of Pharmaceutics;2024-07

2. Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study;The Journal of Clinical Endocrinology & Metabolism;2024-04-25

3. The importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis;Clinical Imaging;2024-01

4. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024

5. Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience;Journal of Inborn Errors of Metabolism and Screening;2024