Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Hurler-Scheie syndrome"'
Autor:
Nato D. Vashakmadze, Olga I. Gumenuyk, Yuri V. Chernenkov, Ekaterina Yu. Zacharova, Igor A. Glushakov
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 4, Pp 241-246 (2024)
Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare disease
Externí odkaz:
https://doaj.org/article/1703f9e300a7492f9e2ddeded0520159
Akademický článek
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Autor:
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva, Marina A. Babaikina, Lyudmila M. Mikhaylova
Publikováno v:
Вопросы современной педиатрии, Vol 19, Iss 2, Pp 132-141 (2020)
Mucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems. Early diagno
Externí odkaz:
https://doaj.org/article/3416a1d22feb472088b5c94eee2f3747
Publikováno v:
Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-5 (2019)
Abstract Background Hurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first d
Externí odkaz:
https://doaj.org/article/e6b44e75a86c45de88b544ad9525633d
Autor:
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Anait K. Gevorkian, Ludmila M. Kuzenkova, Tatiana V. Podkletnova, Marina A. Babaykina, Anatoly B. Anikin, Galina B. Kuznetsova, Liliya A. Osipova, Konstantin V. Jerdev
Publikováno v:
Вопросы современной педиатрии, Vol 15, Iss 6, Pp 562-567 (2016)
Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the l
Externí odkaz:
https://doaj.org/article/125e57dd308e424d903a25f23de8b293
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 72 (2020)
Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened
Externí odkaz:
https://doaj.org/article/c50ea6acd6eb47809dcf8708958c89cf
Autor:
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
Publikováno v:
Diagnostics, Vol 10, Iss 3, p 161 (2020)
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classica
Externí odkaz:
https://doaj.org/article/1ccb59e342924fa8a8d3b871654ca653
Autor:
A. N. Onyiriuka, Oduwole A. O., Oyenusi E. E., I. O. Oluwayemi, Fakeye-Udeogu O. B., M. Kouyate, C. J. Achonwa, M. Abdullahi
Publikováno v:
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, Vol 6, Iss 1, Pp 30-32 (2016)
This case report is about a six-year-old Nigerian boy with a rare genetic disorder of attenuated mucopolysaccharidosis type 1 and the challenges that the clinicians face in managing these patients in resource poor settings. This patient presented wit
Externí odkaz:
https://doaj.org/article/81e81fa7445741bfa967d48b2f8d63b8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Victor Kovac, Elsa G. Shapiro, Kyle D. Rudser, Bryon A. Mueller, Julie B. Eisengart, Kathleen A. Delaney, Alia Ahmed, Kelly E. King, Brianna D. Yund, Morton J. Cowan, Julian Raiman, Eva G. Mamak, Paul R. Harmatz, Suma P. Shankar, Nadia Ali, Stephanie R. Cagle, Jeffrey R. Wozniak, Kelvin O. Lim, Paul J. Orchard, Chester B. Whitley, Igor Nestrasil
Publikováno v:
Molecular genetics and metabolism, vol 135, iss 2
Mol Genet Metab
Mol Genet Metab
OBJECTIVE: To assess our hypothesis that brain macrostructure is different in individuals with mucopolysaccharidosis type I (MPS I) and healthy controls (HC), we conducted a comprehensive multicenter study using a uniform quantitative magnetic resona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5673bc73993533c91fee3a9e51c7d6
https://escholarship.org/uc/item/4141853f
https://escholarship.org/uc/item/4141853f
