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Page 1
Mucopolysaccharidosis Type VII.
Sun A, Wang R. Sun A, et al. 2024 Jan 4. 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 Jan 4. 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: 38190471 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and c …
CLINICAL CHARACTERISTICS: Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with …
Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Grant CL, López-Valdez J, Marsden D, Ezgü F. Grant CL, et al. Mol Genet Metab. 2024 Mar;141(3):108145. doi: 10.1016/j.ymgme.2024.108145. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38301529 Free article. Review.
Mucopolysaccharidosis type VII (MPS VII) is an ultra-rare, life-threatening, progressive disease caused by genetic mutations that affect lysosomal storage/function. MPS VII has an estimated prevalence of <1:1,000,000 and accounts for <3% o …
Mucopolysaccharidosis type VII (MPS VII) is an ultra-rare, life-threatening, progressive disease caused by genet …
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
Lee CL, Chuang CK, Hsu CH, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP. Lee CL, et al. J Formos Med Assoc. 2022 Mar;121(3):712-717. doi: 10.1016/j.jfma.2021.07.024. Epub 2021 Aug 20. J Formos Med Assoc. 2022. PMID: 34420841 Free article. Review.
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. ...Afterward, the molecular analysis showed two heterozygous gene …
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the pati …
Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge.
Sands MS. Sands MS. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:159-65. Pediatr Endocrinol Rev. 2014. PMID: 25345098 Review.
Mucopolysaccharidosis type VII (MPSVII) is an inborn error of metabolism caused by a deficiency in the lysosomal enzyme B-glucuronidase (GUSB). As such, MPSVII is one of a larger class of inherited diseases referred to as lysosomal storage diseases (LSD). (1) …
Mucopolysaccharidosis type VII (MPSVII) is an inborn error of metabolism caused by a deficiency in the lysosomal enzyme …
Novel vectors and approaches for gene therapy in liver diseases.
Maestro S, Weber ND, Zabaleta N, Aldabe R, Gonzalez-Aseguinolaza G. Maestro S, et al. JHEP Rep. 2021 Apr 30;3(4):100300. doi: 10.1016/j.jhepr.2021.100300. eCollection 2021 Aug. JHEP Rep. 2021. PMID: 34159305 Free PMC article. Review.
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G. Spahiu L, et al. Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743503 Free PMC article. Review.
There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. ...Here we provide an overview on kno …
There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation o …
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.
Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebaï M, Bekri S, Ben Jemaa L. Hizem S, et al. Clin Chim Acta. 2021 Feb;513:68-70. doi: 10.1016/j.cca.2020.12.027. Epub 2020 Dec 29. Clin Chim Acta. 2021. PMID: 33382994
It is associated with a poor prognosis and a wide etiological spectrum. Among the metabolic causes, Mucopolysaccharidosis type VII depicts the most frequent type of lysosomal storage disorders in the cause of NIHF. ...In this report, we describe the fi …
It is associated with a poor prognosis and a wide etiological spectrum. Among the metabolic causes, Mucopolysaccharidosis type …
A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.
Fukui K, Amari S, Yotani N, Kosaki R, Hata K, Kosuga M, Sago H, Isayama T, Ito Y. Fukui K, et al. AJP Rep. 2023 Mar 16;13(1):e25-e28. doi: 10.1055/a-2028-7784. eCollection 2023 Jan. AJP Rep. 2023. PMID: 36936745 Free PMC article.
We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. ...At 4 months of …
We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII …
488 results