Results 21 to 30 of about 7,143 (200)

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic

Journal of Inborn Errors of Metabolism and Screening, 2021
The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias.
Pallavelangini Swetha, Inusha Panigrahi, Akshay Saxena, Anupriya Kaur, Rozy Thakur   +4 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

Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report

Journal of Medical Case Reports, 2021
Background A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies ...
Kento Yamauchi, Daishi Hirano, Miho Wada, Hiroyuki Ida   +3 more
doaj   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review

Orphanet Journal of Rare Diseases, 2022
Background Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation management for musculoskeletal pain of ...
R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli, C. Ruosi   +6 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

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Cervical spine involvement in pediatric mucopolysaccharidosis patients: Clinical features, early diagnosis, and surgical management

Frontiers in Surgery, 2023
Mucopolysaccharidosis (MPS) is a progressive genetic disease that causes a deficiency in lysosomal enzymes, which play an important role in the degradation pathway of glycosaminoglycans.
Hai-Tao Liu, Jia Song, Fu-Chao Zhou, Zhi-Hui Liang, Qiu-Qi Zhang, Yue-Hui Zhang, Jiang Shao   +6 more
doaj   +1 more source

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

Diagnostics of mucopolysaccharidoses presented through the case of sanfilippo syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2004
Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucos-aminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented ...
Durković Jasmina
doaj   +1 more source