Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine (N-acetyl)-6-sulfatase (GALNS). Phenotypically it seems to...

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Detalles Bibliográficos
Autores principales: Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Kulpanovich, Anna, Ciara, Elżbieta, Marucha, Jolanta, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483970/
https://www.ncbi.nlm.nih.gov/pubmed/30927141
http://dx.doi.org/10.1007/s13353-019-00491-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483970/
https://www.ncbi.nlm.nih.gov/pubmed/30927141
http://dx.doi.org/10.1007/s13353-019-00491-1

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