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The following term was not found in PubMed: Jestratijevic
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 …
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. ...Missense variants mapped to different residues of G …
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalac …
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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Jul 11 [updated 2021 Jun 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 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. ...MANAGEMENT: Treatment of manifestations: Enzyme re …
CLINICAL CHARACTERISTICS: The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a sev …
CFTR Modulators: Current Status and Evolving Knowledge.
Regard L, Martin C, Da Silva J, Burgel PR. Regard L, et al. Semin Respir Crit Care Med. 2023 Apr;44(2):186-195. doi: 10.1055/s-0042-1758851. Epub 2022 Dec 19. Semin Respir Crit Care Med. 2023. PMID: 36535667 Free article.
However, LUM/IVA and TEZ/IVA were only moderately effective in F508del homozygous pwCF and had no efficacy in those with F508del and minimal function mutations. ...Both IVA and ELX/TEZ/IVA are considered highly effective modulator therapies (HEMTs) in …
However, LUM/IVA and TEZ/IVA were only moderately effective in F508del homozygous pwCF and had no efficacy in those with F508d …
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 …
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. ...Elosulfase alfa is approved for the treatment of MPS I …
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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Mar 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 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 …
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 for MPS IVA …
PURPOSE: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalacto …
A systematic review of stage IVA cervical cancer treatment: Challenges in the management of an understudied group.
Hunsberger KS, Treiman S, Monk BJ, Tewari KS, Taunk NK, Chase DM. Hunsberger KS, et al. Gynecol Oncol. 2024 Aug;187:120-127. doi: 10.1016/j.ygyno.2024.04.027. Epub 2024 May 17. Gynecol Oncol. 2024. PMID: 38759518 Free article.
RESULTS: A total of 133 (3.8% of study populations) stage IVA and 818 (40% of study populations) stage III-IVA cervical cancer patients were analyzed. ...One study (stages III-IVA n = 598; 56%) found benefit adding immunotherapy to chemoradiotherapy (stage II …
RESULTS: A total of 133 (3.8% of study populations) stage IVA and 818 (40% of study populations) stage III-IVA cervical cancer …
10,428 results
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