Clinical utility of elosulfase alfa in the treatment of Morquio A syndrome
CL Lee, CK Chuang, HC Chiu, RY Tu… - Drug Design …, 2022 - Taylor & Francis
Abstract Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive
disorder and is one of the lysosomal storage diseases. Patients with MPS IVA have a striking …
disorder and is one of the lysosomal storage diseases. Patients with MPS IVA have a striking …
MPSI manifestations and treatment outcome: skeletal focus
G De Ponti, S Donsante, M Frigeni, A Pievani… - International Journal of …, 2022 - mdpi.com
Mucopolysaccharidosis type I (MPSI)(OMIM# 252800) is an autosomal recessive disorder
caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L …
caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L …
Exome sequencing identifies a biallelic GALNS variant (p. Asp233Asn) causing mucopolysaccharidosis type IVA in a Pakistani consanguineous family
Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects
the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6 …
the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6 …
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-
acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the …
acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the …
Implementation of Newborn Screening for Mucopolysaccharidosis Type IVA and Long-Term Monitoring in Taiwan
HY Lin, CL Lee, YH Chang, YR Tu, YT Lo, JY Wu… - Genetics in …, 2024 - Elsevier
ABSTRACT Background Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage
disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). Methods …
disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). Methods …
Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome
C Frauenfelder, E Maughan, J Kenth… - Case Reports in …, 2023 - Wiley Online Library
Introduction. The primary cause of death in Morquio A syndrome (mucopolysaccharidosis
(MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic …
(MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic …