Zobrazeno 1 - 10
of 19
pro vyhledávání: '"P.P533R mutation"'
Autor:
Latifa Chkioua, Houda El Fissi, Yessine Amri, Chayma Sahli, Fadoua Bouzid, Hela Boudabous, Neji Tbib, Salima Ferchichi, Taieb Massoud, Najat Alif, Sandrine Laradi, Hassen Ben Abdennebi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective st
Externí odkaz:
https://doaj.org/article/15bce9b578064770b9c19476d24d775b
Akademický článek
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Publikováno v:
Diagnostic Pathology. 2011, Vol. 6 Issue 1, p113-119. 7p.
Publikováno v:
Diagnostic Pathology. 2011, Vol. 6 Issue 1, p47-52. 6p.
Autor:
Chkioua, L.1,2 chkioualatifa2002@yahoo.fr, Khedhiri, S.1,2, Jaidane, Z.1,2, Ferchichi, S.1,2, Habib, S.3, Froissart, R.4, Bonnet, V.4, Chaabouni, M.5, Dandana, A.1,2, Jrad, T.6, Limem, H.1, Maire, I.4, Abdelhedi, M.1,2, Laradi, S.1,2 Sandrine.laradi@mssm.edu
Publikováno v:
Archives de Pédiatrie. Oct2007, Vol. 14 Issue 10, p1183-1189. 7p.
Autor:
Chkioua Latifa, Khedhiri Souhir, Ben Turkia Hadhami, Chahed Henda, Ferchichi Salima, Ben Dridi Marie, Laradi Sandrine, Miled Abdelhedi
Publikováno v:
Diagnostic Pathology, Vol 6, Iss 1, p 113 (2011)
Abstract Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate.
Externí odkaz:
https://doaj.org/article/035771bee3a146f1859c01b6ce4a7c6d
Autor:
Polo, Giulia, Gueraldi, Daniela, Giuliani, Antonella, Rubert, Laura, Cazzorla, Chiara, Salviati, Leonardo, Marzollo, Antonio, Biffi, Alessandra, Burlina, Alessandro P., Burlina, Alberto B.
Publikováno v:
Clinical Chemistry & Laboratory Medicine; Dec2020, Vol. 58 Issue 12, p2063-2072, 10p
Autor:
Henda Chahed, Salima Ferchichi, Latifa Chkioua, Sandrine Laradi, Hadhami Ben Turkia, Abdelhedi Miled, Marie Françoise Ben Dridi, S. Khedhiri
Publikováno v:
Diagnostic Pathology
Diagnostic Pathology, Vol 6, Iss 1, p 113 (2011)
Diagnostic Pathology, Vol 6, Iss 1, p 113 (2011)
Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a8cff578d3ff3ba6052adeeab9bb44
http://europepmc.org/articles/PMC3261812
http://europepmc.org/articles/PMC3261812
Autor:
Bertola, Francesca, Filocamo, Mirella, Casati, Giorgio, Mort, Matthew, Rosano, Camillo, Tylki-Szymanska, Anna, Tüysüz, Beyhan, Gabrielli, Orazio, Grossi, Serena, Scarpa, Maurizio, Parenti, Giancarlo, Antuzzi, Daniela, Dalmau, Jaime, Rocco, Maja Di, Vici, Carlo Dionisi, Okur, Ilyas, Rosell, Jordi, Rovelli, Attilio, Furlan, Francesca, Rigoldi, Miriam
Publikováno v:
Human Mutation; Jun2011, Vol. 32 Issue 6, pE2189-E2210, 22p
Autor:
Chahed Henda, Froissart Roseline, Tcheng Rémy, Turkia Hadhami, Khedhiri Souhir, Chkioua Latifa, Ferchichi Salima, Ben Dridi Marie, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi
Publikováno v:
Diagnostic Pathology, Vol 6, Iss 1, p 47 (2011)
Abstract Background Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate.
Externí odkaz:
https://doaj.org/article/07e4598581ac428d9abf4fd54b6bbb04