Results 21 to 30 of about 1,760 (179)

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA [PDF]

Frontiers in Pediatrics
Treating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and ...
Sofia Maria Carlotta Arnaboldi, Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala, Veronica Leoni, Marco Spinelli, Giacomo Gotti, Laura Rachele Bettini, Laura Rachele Bettini, Viola Crescitelli, Anna Commone, Serena Gasperini, Carmelo Rizzari, Carmelo Rizzari   +15 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

Atypical presentation of mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism Reports, 2016
A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age ...
Eric T. Rush
doaj   +2 more sources

Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]

ACS Omega
Priya M, Vasudev V, N SK, Ahmed SS, Ramasamy M.   +4 more
europepmc   +3 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

A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring

Clinical Medicine Insights: Case Reports, 2021
Mucopolysaccharidosis IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder resulting from N-acetylgalactosamine-6-sulfatase (GALNS) deficiency that occurs in approximately 1 in 76 000 to 1 in 640 000 live births.
Eric Goldman, Angela Vu, Kelly Dietz, Stefani N Thomas   +3 more
doaj   +1 more source

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay. [PDF]

PLoS ONE, 2015
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-
Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs   +6 more
doaj   +1 more source

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

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

Molecular Genetics & Genomic Medicine, 2021
Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and results in skeletal dysplasia symptoms such as short stature and abnormal gait.
Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu   +5 more
doaj   +1 more source