Results 91 to 100 of about 12,041 (191)

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +1 more source

Phenotypic and Genotypic Analysis of RETT Syndrome [PDF]

, 2006
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Kárteszi Judit
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Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1998
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglycans. Among them, mucopolysaccharidosis (MPS) type II (Hunter's syndrome), caused by a deficiency in iduronate sulfatase, is the only one inherited in an X-linked recessive manner. We describe 12 Hunter's syndrome patients and seven carriers, with precise
P H, Su, W L, Hwu, S C, Chiang, P C, Chiu, S J, Lin, S G, Shu, T R, Wang   +6 more
openaire   +1 more source

Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II

Clinical and Biomedical Research, 2014
Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that
Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani   +6 more
doaj   +2 more sources

Nursing care for child carrier mucopolysaccharidosis type II: an experience report

Revista de Enfermagem da UFPI, 2020
DOI: https://doi.org/10.26694/reufpi.v3i1.855 Objetivos: Refletir sobre a assistência de enfermagem ao paciente portador de mucopolissacaridose do tipo II e levantar os principais diagnósticos de enfermagem e intervenções de enfermagem frente ao caso. 
Augusto Everton Dias Castro, Éricka Maria Cardoso Soares, Márcia Teles de Oliveira Gouveia
doaj  

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab Rep, 2023
Yamazaki N, Ohira M, Takada S, Ohtake A, Onodera M, Nakanishi M, Okuyama T, Mashima R.   +7 more
europepmc   +1 more source

Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II. [PDF]

Mol Genet Metab, 2023
Smith MC, Belur LR, Karlen AD, Podetz-Pedersen K, Erlanson O, Laoharawee K, Furcich J, Lund TC, You Y, Seelig D, Webber BR, McIvor RS.   +11 more
europepmc   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan. [PDF]

Mol Genet Metab Rep, 2023
Hattori Y, Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Inoue T, Hirose S, Nakamura K.   +8 more
europepmc   +1 more source

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. [PDF]

Genet Med, 2023
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.   +10 more
europepmc   +1 more source

Genet Med [PDF]

The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the

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