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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly summarized all publ …
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the …
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H. Yi M, et al. J Inherit Metab Dis. 2022 May;45(3):593-604. doi: 10.1002/jimd.12491. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35212421
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) caused by pathogenic variants in the GALNS gene. ...In this cohort, …
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalactosa …
Lentiviral Vector-Mediated Ex Vivo Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model.
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S. Celik B, et al. Hum Gene Ther. 2024 Nov;35(21-22):917-937. doi: 10.1089/hum.2024.094. Epub 2024 Oct 24. Hum Gene Ther. 2024. PMID: 39446675
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by a mutation in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) gene resulting in progressive systemic skeletal dysplasia. ...We conditioned newborn knock …
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by a mutation in the N-acetylgalactosamine-6 …
Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.
Herreño-Pachón AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, Álvarez JV, Tomatsu S. Herreño-Pachón AM, et al. Hum Gene Ther. 2024 Dec;35(23-24):955-968. doi: 10.1089/hum.2024.096. Epub 2024 Oct 25. Hum Gene Ther. 2024. PMID: 39450470
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal congenital metabolic lysosomal disease caused by a deficiency of the N-acetyl-galactosamine-6-sulfate sulfatase (GALNS) gene, leading to severe skeletal dysplasia. The available therapeuti …
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal congenital metabolic lysosomal disease caused by a deficiency of the N-acetyl-ga …
Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.
Diaz-Ordoñez L, Duque-Cordoba PA, Nieva-Posso DA, Saldarriaga W, Gutierrez-Medina JD, Pachajoa H. Diaz-Ordoñez L, et al. JMIR Res Protoc. 2024 Nov 14;13:e56649. doi: 10.2196/56649. JMIR Res Protoc. 2024. PMID: 39541578 Free PMC article.
BACKGROUND: Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This …
BACKGROUND: Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by …
Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p.S162Y and p.C165F mutation.
Jiang X, Chen S, Jiang Z, Chen D, Chen H, Bai G, Yu L, Chen W. Jiang X, et al. QJM. 2025 Jan 1;118(1):17-23. doi: 10.1093/qjmed/hcae164. QJM. 2025. PMID: 39186005
Enzyme replacement therapy could not correct her skeletal abnormalities. GALNS c.485C>A (p.S162Y) and c.494G>T (p.C165F) mutations, inherited from her father and mother, respectively, were identified in the patient. These two mutations were predicted to disturb the h …
Enzyme replacement therapy could not correct her skeletal abnormalities. GALNS c.485C>A (p.S162Y) and c.494G>T (p.C165F) mutati …
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H, Naik P, Shah M, Bhavsar R, Nair A, Sheth F, Sheth J. Sheth H, et al. BMC Genomics. 2022 Jun 21;23(1):458. doi: 10.1186/s12864-022-08693-4. BMC Genomics. 2022. PMID: 35729508 Free PMC article.
BACKGROUND: Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene. The mutation spectrum in this condition is determined a …
BACKGROUND: Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biall …
Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts.
Puentes-Tellez MA, Sánchez OF, Rojas-Rodriguez F, Benincore-Flórez E, Barbosa H, Alméciga Díaz CJ. Puentes-Tellez MA, et al. Gene. 2021 May 15;780:145527. doi: 10.1016/j.gene.2021.145527. Epub 2021 Feb 23. Gene. 2021. PMID: 33636292
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease produced by the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, leading to glycosaminoglycans (GAGs) accumulation. ...The results showed t …
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease produced by the deficiency of the N-acetylgalactosamine …
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F. Bertolin J, et al. Nat Commun. 2021 Sep 9;12(1):5343. doi: 10.1038/s41467-021-25697-y. Nat Commun. 2021. PMID: 34504088 Free PMC article.
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulatio …
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine …
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Lin HY, Lee CL, Chang YH, Tu YR, Lo YT, Wu JY, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Lin HY, et al. Genet Med. 2024 Dec;26(12):101286. doi: 10.1016/j.gim.2024.101286. Epub 2024 Oct 4. Genet Med. 2024. PMID: 39375993
PURPOSE: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine-6-sulfatase. METHODS: From September 2019 to October 2023, a total of 264,843 Taiwanese newborns underwent screening fo …
PURPOSE: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosami …
29 results