Results 41 to 50 of about 25,294 (214)

Audiologic evaluations of children with mucopolysaccharidosis

Brazilian Journal of Otorhinolaryngology
INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Çağil Gökdoğan, Senay Altinyay, Ozan Gökdoğan, Hakan Tutar, Bülent Gündüz, Ilyas Okur, Leyla Tümer, Yusuf Kemal Kemaloğlu   +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

Mucopolysaccharidosis: A broad review

Indian Journal of Ophthalmology, 2022
Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). Defective breakdown of GAG products leads to their widespread accumulation within the lysosomes of various organs involving the eye ...
Ritu Nagpal, Ram Bharos Goyal, K Priyadarshini, Seema Kashyap, Mohita Sharma, Rajesh Sinha, Namrata Sharma   +6 more
openaire   +3 more sources

Mucopolysaccharidosis Type I [PDF]

Diagnostics, 2020
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler–Scheie, and the most attenuated form ...
Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani   +8 more
openaire   +3 more sources

Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family

The Turkish Journal of Pediatrics, 2018
Mucopolysaccharidosis (MPS) type I is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. MPS I is divided into three subtypes based on the severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndrome ...
Songül Gökay, Fatih Kardaş, Mustafa Kendirci, Betül Sözeri   +3 more
doaj   +1 more source

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel, A McDonald, AA Madawi, AL Brooks, AM McLaughlin, AM Montano, AO Ransford, Christian G. Lampe, Christian J. Hendriksz, Christina Lampe, CO Oluigbo, D Shukla, DC Holte, DD Horovitz, DG Hughes, E Castel, ES Lustrin, F Sala, G Solanki, GA Solanki, GA Solanki, GA Solanki, GA Solanki, Guirish A. Solanki, H Elgafy, H Northover, HR Harnsberger, J Ashraf, J Harms, J Nelson, J Nelson, JE Wraith, JF Brailsford, JJ McGill, JK Houten, JM Stevens, JS Torg, JT Kessler, KA Morgan, Kenneth W. Martin, KG Belani, KK White, Klane K. White, L Morquio, M Furujo, Mary C. Theroux, MC Ain, MC Theroux, MD Helgeson, ME Blaw, Michael Beck, MJ Krammer, MM Stecker, O Svensson, P Beighton, Paul R. Harmatz, R Ahmed, R Boor, R Claybrooks, R Lachman, R Lachman, Renée Shediac, RJ Bransford, RW Haid Jr, RW Walker, S Dalvie, S Tomatsu, S Tomatsu, S Ulkatan, SD Boden, SH Lee, SJ Lipson, SY Shinhar, T Gunnarsson, T Henriques, W Müller-Forell, WE Gallie, WG Mackenzie, William G. Mackenzie   +78 more
core   +2 more sources

MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS

Вопросы современной педиатрии, 2014
Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk   +5 more
doaj   +1 more source

Mucopolysaccharidosis-Plus Syndrome [PDF]

International Journal of Molecular Sciences, 2020
Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene.
Vasilev, Filipp, Sukhomyasova, Aitalina, Otomo, Takanobu   +2 more
openaire   +2 more sources

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Spine radiograph in dysplasias: A pictorial essay

Indian Journal of Radiology and Imaging, 2020
Spine radiograph is an essential component of a skeletal survey. It provides important diagnostic clues to various types of skeletal dysplasia. In some conditions, a spine radiograph alone may be diagnostic and characteristic; but mostly, it yields more ...
Pavan Gabra, Manisha Jana, Priyanka Naranje, Neerja Gupta, Madhulika Kabra, Arun K Gupta, Richa Yadav   +6 more
doaj   +1 more source