Audiological and radiological study of eight polish patients with alpha-mannosidosis-Reference-Cited by-同舟云学术

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Audiological and radiological study of eight polish patients with alpha-mannosidosis

Published:2023-06 Issue: Volume:169 Page:111556
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Iwanicka-Pronicka K.,Guzek A.,Sarnecki J.,Tylki-Szymańska A.

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference25 articles.

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

2. Recognition of alpha-mannosidosis in paediatric and adult patients: presentation of a diagnostic algorithm from an international working group;Guffon;Mol. Genet. Metabol.,2019

3. Lysosomal alpha-mannosidase and alpha-mannosidosis;Paciotti;Front. Biosci.,2017

4. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation;Borgwardt;Orphanet J. Rare Dis.,2015

5. amamutdb.no: a relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis;RiiseStensland;Hum. Mutat.,2015

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