Results 81 to 90 of about 5,715,301 (195)

Mucopolysaccharidosis type II: skeletal-muscle system involvement

, 2015
Mucopolysaccharidosis type II (MPS-II) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulphatase.
Gerson, LBP, Steiner, CE, Morini, SR
core   +1 more source

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

Cervical spondylolisthesis in mucopolysaccharidosis type II

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

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

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Orphanet Journal of Rare Diseases, 2019
Background A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients.
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana, Jordi Pérez-López   +10 more
doaj   +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

Bryon II

, 1994
Chef John Sarich of Chateau St ...
Bryon II
core  

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