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The following term was not found in PubMed: Charamzova
Page 1
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Sawamoto K, et al. Int J Mol Sci. 2020 Feb 23;21(4):1517. doi: 10.3390/ijms21041517. Int J Mol Sci. 2020. PMID: 32102177 Free PMC article. Review.
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. ...GAG accumulation in these lesions leads to unique skeletal dysplasia i …
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the …
Faricimab for Treatment-Resistant Diabetic Macular Edema.
Rush RB, Rush SW. Rush RB, et al. Clin Ophthalmol. 2022 Aug 24;16:2797-2801. doi: 10.2147/OPTH.S381503. eCollection 2022. Clin Ophthalmol. 2022. PMID: 36042912 Free PMC article.
PURPOSE: To assess the short-term outcomes in treatment-resistant diabetic macular edema (DME) patients changed from intravitreal aflibercept (IVA) to intravitreal faricimab (IVF). METHODS: A retrospective review was undertaken on DME subjects receiving IVA therapy …
PURPOSE: To assess the short-term outcomes in treatment-resistant diabetic macular edema (DME) patients changed from intravitreal aflibercep …
Intravitreal Faricimab for Aflibercept-Resistant Neovascular Age-Related Macular Degeneration.
Rush RB, Rush SW. Rush RB, et al. Clin Ophthalmol. 2022 Dec 9;16:4041-4046. doi: 10.2147/OPTH.S395279. eCollection 2022. Clin Ophthalmol. 2022. PMID: 36532820 Free PMC article.
PURPOSE: To evaluate the short-term effects of intravitreal faricimab (IVF) in treatment-resistant neovascular age-related macular degeneration (nAMD) subjects previously treated with intravitreal aflibercept (IVA). METHODS: A retrospective review was conducted on nAMD pat …
PURPOSE: To evaluate the short-term effects of intravitreal faricimab (IVF) in treatment-resistant neovascular age-related macular degenerat …
Mucopolysaccharidosis Type IVA.
Regier DS, Oetgen M, Tanpaiboon P. Regier DS, et al. 2013 Jul 11 [updated 2021 Jun 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Jul 11 [updated 2021 Jun 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 23844448 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. ...Compression of the spinal cord is a common complic …
CLINICAL CHARACTERISTICS: The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a sev …
Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.
Leal AF, Alméciga-Díaz CJ, Tomatsu S. Leal AF, et al. Int J Mol Sci. 2023 Nov 9;24(22):16148. doi: 10.3390/ijms242216148. Int J Mol Sci. 2023. PMID: 38003337 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. ...This manuscript reviews the current in vitro and in vivo MPS IVA models and their drawbacks....
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (G …
Bone Growth Induction in Mucopolysaccharidosis IVA Mouse.
Rintz E, Herreño-Pachón AM, Celik B, Nidhi F, Khan S, Benincore-Flórez E, Tomatsu S. Rintz E, et al. Int J Mol Sci. 2023 Jun 8;24(12):9890. doi: 10.3390/ijms24129890. Int J Mol Sci. 2023. PMID: 37373036 Free PMC article.
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 i …
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is caused by a deficiency of the N-acetylgalactosamine-6-sulfate-sulfa …
Elosulfase alfa.
Haddley K. Haddley K. Drugs Today (Barc). 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904. Drugs Today (Barc). 2014. PMID: 25101330 Review.
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by genetic mutations in N-acetylgalactosamine-6-sulfatase (GALNS) enzyme gene. ...BioMarin Pharmaceutical developed elosulfase alfa, a reco …
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused …
Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. ...Urinary glycosaminoglycan analysis is particularly problematic …
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a …
Classic Isovaleric Acidemia.
Mütze U, Reischl-Hajiabadi A, Kölker S. Mütze U, et al. 2024 Mar 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Mar 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38484105 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. …
CLINICAL CHARACTERISTICS: Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identi …
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. ...In this review article, we comprehensively describe clinical, radiographic, biochemical, and molecula …
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acety …
9,695 results