Results 11 to 20 of about 5,240 (183)

Audiometric evaluation in individuals with mucopolysaccharidosis

Clinics, 2018
OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated.
Marcela Rosana Maia da Silveira, Ana Karina Lima Buriti, Ana Maria Martins, Daniela Gil, Marisa Frasson de Azevedo   +4 more
doaj   +2 more sources

Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12

Stem Cell Research, 2023
We generated two human induced pluripotency stem cell (hiPSC) lines, RCMGi011-A and 11-B, from skin fibroblast from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12 using non-integrating, viral CytoTune ...
I.O. Panchuk, O.V. Grigorieva, E.V. Kondrateva, E.V. Kurshakova, VYu. Tabakov, I.O. Bychkov, EYu. Zakharova, M.D. Orlova, E.S. Voronina, V.O. Pozhitnova, A.V. Lavrov, S.A. Smirnikhina, S.I. Kutsev   +12 more
doaj   +2 more sources

Salivary Metabolites in Patients with Mucopolysaccharidosis

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2023
Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods:The participants were asked to refrain from eating and drinking for one hour before sampling, performed between ...
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Tatiana Kelly da Silva Fidalgo, Ana Paula Canedo Valente, Liana Bastos Freitas-Fernandes, Ivete Pomarico Ribeiro de Souza   +5 more
doaj   +3 more sources

Airway management in mucopolysaccharidosis: a retrospective case series review

Brazilian Journal of Anesthesiology, 2023
Airway management can be difficult in surgeries of patients with mucopolysaccharidosis. We performed a retrospective review of 31 surgeries performed between 2015 and 2019. The mean age of the patients was 127.6 months.
Murat Tümer, Aysun Ankay Yılbaş, Sehend Debbağ, Fatma Sarıcaoğlu, Özgür Canbay   +4 more
doaj   +2 more sources

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

South African Journal of Radiology, 2012
Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III ...
umesh chandra parashari, sachin khanduri, samarjit bhadury, sugandha rawat   +3 more
doaj   +3 more sources

Hearing Loss in Mucopolysaccharidosis

International Archives of Otorhinolaryngology, 2021
Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical ...
Cibele Gomes Bicalho, Emília Katiane Embiruçu de Araújo Leão, Álvaro Muiños de Andrade, Angelina Xavier Acosta   +3 more
doaj   +2 more sources

Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up

Case Reports in Dentistry, 2020
Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans.
Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel   +4 more
doaj   +2 more sources

Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Mucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS).
Mariana Ardila Marín, Carlos Arturo Caicedo Toro, Jeyson Steven Rojas Banguero, José María Satizabal Soto, Daniela Arturo Terranova   +4 more
doaj   +2 more sources

Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB

Case Reports in Orthopedics, 2021
Introduction. Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as ...
Yannick N. T. van den Eeden, Niklas Unter Ecker, Holger Kleinertz, Thorsten Gehrke, Tobias M. Ballhause   +4 more
doaj   +2 more sources

Clinical and oral characteristics in patients affected by mucopolysaccharidosis type IV – A: Case reports

Revista de Odontopediatria Latinoamericana
Introduction: Mucopolysaccharidoses are rare diseases related to chronic metabolic conditions caused by a genetic mutation that results in the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans, causing alterations in ...
Marcela Favaretto Paro Pereira, Gabriela Leal Peres Fernandes, Isabella Silva Catananti , Eduarda Martins Fontes Cantarella de Almeida , Laura Imbriani Bento de Azevedo, Manuela Marquesini Vanim, Marcelle Danelon   +6 more
doaj   +3 more sources