Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
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ABSTRACT:
SUBMITTER: Jezela-Stanek A
PROVIDER: S-EPMC6483970 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
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Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.
Jezela-Stanek Aleksandra A Różdżyńska-Świątkowska Agnieszka A Kulpanovich Anna A Ciara Elżbieta E Marucha Jolanta J Tylki-Szymańska Anna A
Journal of applied genetics 20190330 2
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 be a well-defined condition, with two main clinical forms: mild (attenuated) and severe, which are determined based on a combination of symptoms, i.e., enzymatic activity of GALNS, age of onset, and s ...[more]
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