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Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

  • Published:2019-04 Issue:4 Volume:126 Page:470-474
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Guffon N.,Tylki-Szymanska A.,Borgwardt L.,Lund A.M.,Gil-Campos M.,Parini R.,Hennermann J.B.

Funder

Chiesi Farmaceutici

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment;Borgwardt;Pediatr. Endocrinol. Rev.,2014

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

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

4. Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function;Borgwardt;Clin. Genet.,2016

5. High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba;Menendez-Sainz;Genet. Mol. Res.,2012

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