Results 91 to 100 of about 9,431 (199)

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Cervical spondylolisthesis in mucopolysaccharidosis type II

Neurological Sciences, 2022
Rossi, Alessandro, Parenti, Giancarlo
openaire   +3 more sources

Osteoarthropathy in mucopolysaccharidosis type II.

Clujul medical (1957), 2015
Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu, Paula, Grigorescu-Sido, Camelia, Al-Khzouz, Simona, Bucerzan, Carmencita, Denes, Cecilia, Lazea   +5 more
openaire   +1 more source

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +1 more source

Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry

World Journal of Clinical Pediatrics
BACKGROUND Mucopolysaccharidosis type II (MPS II) is a chronic inherited disease with multiorgan involvement, a progressive course, and restricted life expectancy. AIM To evaluate the predictors of fatal outcomes in MPS II patients.
Buchinskaya, Natalia, Vechkasova, Anastasia, Vashakmadze, Nato, Namazova-Baranova, Leyla, Ivanov, Dmitry, Zakharova, Ekaterina, Kutsev, Sergei, Kostik, Mikhail   +7 more
openaire   +2 more sources

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. [PDF]

Int J Mol Sci, 2023
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.   +15 more
europepmc   +1 more source

Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice. [PDF]

Mol Pharm, 2023
Imakiire A, Morimoto H, Suzuki H, Masuda T, Yoden E, Inoue A, Morioka H, Konaka T, Mori A, Shirasaka R, Kato R, Hirato T, Sonoda H, Minami K.   +13 more
europepmc   +1 more source

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. [PDF]

Mol Genet Metab Rep, 2023
Lau H, Harmatz P, Botha J, Audi J, Link B.   +4 more
europepmc   +1 more source

遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. [PDF]

, 1995
博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
396222, 祐川, 和子
core  

A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. [PDF]

Orphanet J Rare Dis, 2023
Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG.   +5 more
europepmc   +1 more source