Results 11 to 20 of about 8,071 (187)

Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA. [PDF]

Orphanet J Rare Dis, 2022
Abstract BackgroundPatients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused materials, we present a directed approach for mucopolysaccharidosis (MPS) VI and MPS IVA, a pair of rare ...
Bruce IA, Ezgü FS, Kampmann C, Kenis V, Mackenzie W, Stevens B, Walker R, Hendriksz C.   +7 more
europepmc   +9 more sources

Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene

Stem Cell Research
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with ...
Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Alessia Caroli, Laura Giunti, Martino Calamai, Elena Procopio, Renzo Guerrini, Amelia Morrone, Rodolfo Tonin   +10 more
doaj   +4 more sources

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome) [PDF]

Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis (MPS) IVA (Morquio A syndrome) is an autosomal recessive lysosomal storage disorder caused by a mutation affecting the enzyme N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4, GALNS).
Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho   +19 more
doaj   +2 more sources

Nonviral delivery of nCas9 for "safe harbor" integration to treat MPS IVA. [PDF]

Mol Ther Methods Clin Dev
Ou L.
europepmc   +3 more sources

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +2 more sources

Integrated management of an adult patient with Mucopolysaccharidosis type IVA: a case report with a six-year follow-up

European Journal of Case Reports in Internal Medicine, 2023
Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency.
Anita Vergatti, Veronica Abate, Matteo Della Monica, Gianpaolo De Filippo, Domenico Rendina, Antonio Barbato   +5 more
doaj   +1 more source

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. [PDF]

PLoS ONE, 2010
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), an enzyme that degrades keratan sulfate (KS). Currently no therapy for MPS IVA is available.
Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis, Michel Vellard   +7 more
doaj   +1 more source

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia. [PDF]

Orphanet J Rare Dis
AbstractBackgroundMucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating clinical manifestations. These conditions are thought to have higher-than-average prevalence
AlSayed M, Arafa D, Al-Khawajha H, Afqi M, Al-Sanna'a N, Sunbul R, Faden M.   +6 more
europepmc   +4 more sources

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

BMC Pediatrics, 2021
Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and ...
Zhuhui Ge, Jianhua Mao, Huijun Shen, Yu Xu, Haidong Fu, Weiwei Zhang, Dongyan Li   +6 more
doaj   +1 more source

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD Reports, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase.
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal   +5 more
doaj   +1 more source