Results 151 to 160 of about 1,973 (193)

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights. [PDF]

Cureus
Farah RE, Farah RE, Ayasa IW, Abuisneina S.   +3 more
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Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

Journal of Inherited Metabolic Disease, 1995
SummaryPatients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten.
H, Northover, R A, Cowie, J E, Wraith
openaire   +2 more sources

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

American Journal of Medical Genetics Part A, 2014
AbstractMucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N‐acetylgalactosamine 6‐sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and ...
Felippe, Borlot, Paula Ricci, Arantes, Caio Robledo, Quaio, José Francisco da Silva, Franco, Charles Marques, Lourenço, Israel, Gomy, Debora Romeo, Bertola, Chong Ae, Kim   +7 more
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Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2021
AbstractColombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty‐seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations.
Harry Pachajoa, Maria Amparo Acosta, Carlos J. Alméciga‐Díaz, Yoseth Ariza, Lorena Diaz‐Ordoñez, Gabriela Caicedo‐Herrera, Daniel Cuartas, Jose Antonio Nastasi‐Catanese, Diana Ramírez‐Montaño, Yiseth Katherine Silva, Lina Moreno, Jose Satizabal, Natalia Garcia, Jorge Montoya, Carlos Prada, Gloria Porras, Harvy Velasco, Estephania Candelo   +17 more
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Retrospective analysis of sleep breathing disorders in mucopolysaccharidosis type IVA

Paediatric respiratory physiology and sleep, 2018
Background: Data on sleep disordered breathing in patients with mucopolysaccharidosis type IVA (Morquio A), an autosomal recessive lysosomal storage disease, are scarce. Aim: The aim of the present study was to analyse sleep characteristics of Morquio A syndrome.
Giulia Facchina, Alessandro Amaddeo, Sonia Khirani, Genevieve Baujat, Syril James, Sylvain Breton, Brigitte Fauroux   +6 more
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Hip morphology in mucopolysaccharidosis type IVA through radiograph, magnetic resonance imaging and arthrogram assessment

International Orthopaedics, 2020
This study examined the hip morphology of paediatric patients with mucopolysaccharidosis (MPS) type IVA (MPS IVA).This was a retrospective chart review of 42 hips in 21 children with MPS IVA. Pelvic radiographs and magnetic resonance imaging (MRI) scans of 42 hips and arthrograms of 13 hips were analysed.
Mingyuan, Miao, Zhigang, Wang, Haiqing, Cai, Liwei, Hu, Jingxia, Bian, Haoqi, Cai   +5 more
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Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families

Gene, 2019
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder caused by GALNS gene mutation. The aim of our study is to detect pathogenic variants for patients suspected of MPS IVA and set the base for subsequent prenatal diagnosis and preimplantation genetic diagnosis.In our study, 9 MPS IVA patients from south ...
Jie Xie, Jingxin Pan, Dongwei Guo, Weimian Pan, Rong Li, Chunmiao Guo, Minlian Du, Weiying Jiang, Yibin Guo   +8 more
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Lentiviral gene therapy for mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2023
Betul Celik, Estera Rintz, Fnu Nidhi, Shaukat Khan, Shunji Tomatsu   +4 more
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Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients

European Journal of Radiology, 2017
Main symptom of mucopolysaccharidosis type IVa (MPS IVa) is progressive systemic skeletal dysplasia. This is routinely monitored by cerebral and spinal MRI. The vascular system is generally not in the primary focus of interest. In our population of MPS IVa patients we observed vessel shape alterations of the vertebrobasilar arteries, which has not been
Yasemin, Tanyildizi, Seyfullah, Gökce, Federico, Marini, Anna K, Mayer, Stefanie, Kirschner, Julia B, Hennermann, Marc A, Brockmann   +6 more
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Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis

BMJ Case Reports
A twin child in early childhood presented with growth failure and multiple skeletal deformities involving both axial and appendicular skeleton. They did not have any upper limb deformity, fractures, dental anomalies, mental retardation, facial coarsening or organomegaly.
Parth Jethwani, Shinjan Patra, Minal Pande, Ketki Kedar   +3 more
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