Results 31 to 40 of about 12,041 (191)

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]

, 2011
Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I, Ellinwood, N Matthew, Kakkis, Emil D, Lyons, Jeremiah A, McEntee, Michael F, Passage, Merry B, Wall, Jonathan S   +6 more
core   +3 more sources

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review [PDF]

Journal of Medical Academics, 2023
Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II ...
Yancarlos Ramos-Villegas, Loraine Quintana-Pájaro, Christian Meza-Valle, Mario Contreras-Arrieta, Huber Padilla-Zambrano, Tariq Janjua, Willem G Calderon-Miranda, Yelson A Picon-Jaimes, Julio Castillo-Blandino, Luis R Moscote-Salazar, Natalia Guevara-Moriones   +10 more
doaj   +1 more source

Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case

Вопросы современной педиатрии, 2023
Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of ...
Natalia V. Zhurkova, Nato D. Vashakmadze, Ludmila K. Mikhaylova, Marina A. Babaykina, Nina V. Fedorova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Orthopedic management of the extremities in patients with Morquio A syndrome. [PDF]

, 2014
BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature,
Bache, C Edward, Harmatz, Paul R, Jester, Andrea, Mackenzie, William G, Shediac, Renée, Thacker, Mihir M, White, Klane K   +6 more
core   +1 more source

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]

, 2019
Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen, Chen, Chao-Yin, Cimms, Tricia, Haller, Christine, Harmatz, Paul, Song, Wenjie, Wang, Raymond Y, Whitley, Chester B   +7 more
core   +1 more source

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Bone metabolism in patients with mucopolysaccharidosis type II

Rheumatology, 2014
Objectives : To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology.
Zbigniew Żuber, Agnieszka Jurecka, Anna Król-Zdechlikiewicz, Agnieszka Różdżyńska-Świątkowska, Anna Tylki-Szymańska   +4 more
doaj   +1 more source