Results 11 to 20 of about 3,483 (174)

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing

JIMD Reports
Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved treatment for mucopolysaccharidosis type IVA. This case report delineates the 5‐year outcomes of ERT in two Korean siblings with mucopolysaccharidosis type IVA, with the younger ...
Shinjie Choi, Hyoungmin Kim, Tae‐Joon Cho, Jung Min Ko   +3 more
doaj   +2 more sources

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

Diagnostics, 2021
Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs).
Nivethitha Arunkumar, Dung Chi Vu, Shaukat Khan, Hironori Kobayashi, Thi Bich Ngoc Can, Tsubasa Oguni, Jun Watanabe, Misa Tanaka, Seiji Yamaguchi, Takeshi Taketani, Yasuhiko Ago, Hidenori Ohnishi, Sampurna Saikia, José V. Álvarez, Shunji Tomatsu   +14 more
doaj   +1 more source

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions [PDF]

Genetics and Molecular Biology, 2021
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may ...
Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani   +11 more
doaj   +1 more source

Burden of Surgical Treatment for the Management of Cervical Myelopathy in Mucopolysaccharidoses: A Systematic Review

Brain Sciences, 2022
Mucopolysaccharidoses (MPSs) are a rare group of heterogeneous genetic and metabolic disorders, caused by loss of functions of several enzymes that are involved in glycosaminoglycan catabolism.
Roberta Costanzo, Lapo Bonosi, Massimiliano Porzio, Federica Paolini, Lara Brunasso, Andrea Evier Giovannini, Manikon Poullay Silven, Giuseppe Roberto Giammalva, Giuseppe Emmanuele Umana, Gianluca Scalia, Domenico Gerardo Iacopino, Rosario Maugeri   +11 more
doaj   +1 more source

Atypical corneal clouding in mucopolysaccharidoses

Oman Journal of Ophthalmology, 2023
The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS).
Mary Stephen, M Loganathan, S Swathi, B Priyavadhana   +3 more
doaj   +1 more source

Role of Preoperative Multidetector Computed Tomography Airway Reconstruction in Anaesthetic Management of Mucopolysaccharidosis Type IV

Airway, 2021
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that often present with a difficult airway. The trachea is usually narrowed and flattened, making the choice of correct technique and endotracheal tube (ETT) size crucial ...
Pradeep Tiwari, Nirav M Kotak, Anita N Shetty   +2 more
doaj   +1 more source

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses

Orphanet Journal of Rare Diseases, 2018
Background Carpal tunnel syndrome (CTS) is a common complication of the mucopolysaccharidoses. In severe or attenuated mucopolysaccharidoses patients, clinical symptoms of CTS usually appear at a late stage of median nerve compression.
Kim Maincent, Bénédicte Héron, Thierry Billette de Villemeur, Michèle Mayer   +3 more
doaj   +1 more source

Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review [PDF]

Journal of Pediatrics Review, 2023
Background: There is an association between treatment options and growth in patients with mucopolysaccharidoses (MPS). The appropriate management of MPS is an essential factor for the growth of the patients.
Seyed Ebrahim Tabatabayipoor, Noushin Rostampour, Silva Hovsepian, Homyra Raispour, Reza Hashemipour, Arvin Khachikian, Mahin Hashemipour   +6 more
doaj  

Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments

Вопросы современной педиатрии, 2015
Mucopolysaccharidoses are a group of hereditary metabolic diseases, relating to lysosomal storage disorders and caused by a deficiencyof the enzymes, involved in degradation of glycosaminoglycans (mucopolysaccharides).
L. A. Osipova, L. M. Kuzenkova, L. S. Namazova-Baranova, A. K. Gevorkyan, T. V. Podkletnova, N. D. Vashakmadze   +5 more
doaj   +1 more source

Diagnosis of the mucopolysaccharidoses [PDF]

Rheumatology, 2011
The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement ...
Thomas J A, Lehman, Nicole, Miller, Becky, Norquist, Lisa, Underhill, Joan, Keutzer   +4 more
openaire   +2 more sources