Results 21 to 30 of about 2,254 (171)

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

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model [PDF]

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is due to the deficiency of GALNS (N-acetylgalactosamine 6-sulfate sulfatase) and is characterized by systemic skeletal dysplasia.
Kazuki Sawamoto, Subha Karumuthil-Melethil, Shaukat Khan, Molly Stapleton, Joseph T. Bruder, Olivier Danos, Shunji Tomatsu   +6 more
doaj   +2 more sources

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse. [PDF]

Int J Mol Sci, 2023
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is caused by a deficiency of the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) enzyme, leading to the accumulation of glycosaminoglycans (GAG), keratan sulfate (KS) and chondroitin-6-sulfate (C6S), mainly in cartilage and bone.
Rintz E, Herreño-Pachón AM, Celik B, Nidhi F, Khan S, Benincore-Flórez E, Tomatsu S.   +6 more
europepmc   +3 more sources

Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA

Scientific Reports
Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López, Luisa F. Prada, Carlos J. Alméciga-Díaz   +2 more
doaj   +3 more sources

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks [PDF]

Int J Mol Sci, 2023
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 lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients.
Leal A, Alméciga-Díaz C, Tomatsu S.
europepmc   +3 more sources

Recent advances in mucopolysaccharidosis IVA treatment. [PDF]

Orphanet J Rare Dis
Abstract Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GALNS gene, resulting in N-acetylgalactosamine-6-sulfatase (GALNS) deficiency and accumulation of keratan sulfate and chondroitin-6-sulfate.
Leal AF, Pachajoa H.
europepmc   +2 more sources

Mucopolysaccharidosis IVA and glycosaminoglycans. [PDF]

Mol Genet Metab, 2017
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S.   +8 more
europepmc   +4 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

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome). [PDF]

Expert Opin Orphan Drugs, 2013
Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA) is one of the lysosomal storage diseases and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme leads to accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
Tomatsu S, Alméciga-Díaz CJ, Barbosa H, Montaño AM, Barrera LA, Shimada T, Yasuda E, Mackenzie WG, Mason RW, Suzuki Y, Orii KE, Orii T.   +11 more
europepmc   +4 more sources

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin, Víctor Sánchez, Albert Ribera, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, Xavier León, Carles Roca, Veronica Jimenez, Pedro Otaegui, Francisca Mulero, Marc Navarro, Jesús Ruberte, Fatima Bosch   +18 more
doaj   +1 more source