Misdiagnosis in mucopolysaccharidoses-Reference-Cited by-同舟云学术

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Misdiagnosis in mucopolysaccharidoses

Published:2022-05-13 Issue:3 Volume:63 Page:475-495
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genetics

Author:

Wiśniewska Karolina,Wolski Jakub,Gaffke Lidia,Cyske Zuzanna,Pierzynowska Karolina,Węgrzyn Grzegorz

Funder

Narodowe Centrum Nauki

Uniwersytet Gdański

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s13353-022-00703-1.pdf

Reference100 articles.

1. Ahmed M, Saleem A, Nasir S, Ariff M, Iftikhar P (2020) Landau-Kleffner syndrome: a diagnostic challenge cureus. J Med Sci 12:7182. https://doi.org/10.7759/cureus.7182

2. Akyol MU, Alden TD, Amartino H et al (2019) Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis 14:118. https://doi.org/10.1186/s13023-019-1080-y

3. Al-Sannaa NA, Al-Abdulwahed HY, Al-Majed SI, Bouholaigah IH (2017) The clinical and genetic spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia. J Community Genet 9:65–70. https://doi.org/10.1007/s12687-017-0329-1

4. Amartino H (2015) Hunter syndrome (mucopolysaccharidosis II) –the signs and symptoms a neurologist needs to know. Eur Neurol Rev 10:90–94. https://doi.org/10.17925/ENR.2015.10.01.90

5. Anikiej-Wiczenbach P, Rudnik A, Limanówka M, Wierzba J, Mański A (2020) Diagnosis of children with Sanfilippo disease—psychological, social and motor assessment. Acta Neuropsychol 18:525–535. https://doi.org/10.5604/01.3001.0014.5316

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