α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype-Reference-Cited by-同舟云学术

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α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype

Published:2020-06 Issue:2 Volume:130 Page:149-152
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wiesinger Thomas,Schwarz Markus,Mechtler Thomas P.,Liebmann-Reindl Sandra,Streubel Berthold,Kasper David C.

Funder

Sanofi Genzyme

BioMarin

Publisher

Elsevier BV

Subject

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

Reference20 articles.

1. Alpha-mannosidosis;Malm;Orphanet J. Rare Dis.,2008

2. Newborn screening for lysosomal storage diseases;Gelb;Clin. Chem.,2015

3. Glycosaminoglycans detection methods: applications of mass spectrometry;Kubaski;Mol. Genet. Metab.,2017

4. Natural history of alpha mannosidosis a longitudinal study;Beck;Orphanet J. Rare Dis.,2013

5. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis;Lund;J. Inherit. Metab. Dis.,2018

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1. Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening;Frontiers in Pediatrics;2024-07-15

2. Alpha-mannosidosis in a 3.5-year-old girl: A case report;2024-03-06

3. Carrier frequency and incidence of alpha-mannosidosis: population database-based study—focus on the East Asian and Korean population;Frontiers in Genetics;2023-12-01

4. Audiological and radiological study of eight polish patients with alpha-mannosidosis;International Journal of Pediatric Otorhinolaryngology;2023-06

5. First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha‐mannosidosis;American Journal of Medical Genetics Part A;2023-04-12

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