Results 81 to 90 of about 6,677,368 (199)

Cervical spondylolisthesis in mucopolysaccharidosis type II

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

Merging evans syndrome with mucopolysaccharidosis type II: a case report

Frontiers in Pediatrics
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang, Jing Zhang, Yanhui Tang, Chunyan Liu, Peng Hu, You Yang, Hongying Chen   +6 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

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

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

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

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter’s Syndrome) in a Developing Country: a Case Report [PDF]

, 2015
BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could
Ibraheem, R, Ibraheem, G, AbdulAzeez, A, Oladele, P, Abdulkadri, M, Katibi, S   +5 more
core   +1 more source

Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation

Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF).
Yulia V. Maximova, Aleksandr M. Nikonov, Sergei I. Kutsev, Elena V. Osipova, Vera I. Kurilova, Khasyanya F. Aksyanova, Nina I. Kononenko, Mikhail M. Kostik, Yulia S. Koshevaya, Elena G. Bakulina, Ekaterina Yu. Zakharova, Anastasia O. Vechkasova, Natalia V. Buchinskaia, Rostislav K. Skitchenko   +13 more
core   +1 more source

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
core  

EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES

, 2020
Introduction: Mucopolysaccharidosis (MPS) are lysosomal storage diseases characterized by chronic, progressive and multiple system involvement due to impaired glycosaminoglycans destruction. There are 7 types of MPS as type I, II, III, IV, VI, VII and IX.
Karaca, Meryem, Cakar, Nafiye Emel
core   +1 more source