Results 91 to 100 of about 11,933,855 (190)

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  

Mucopolysaccharidosis type II with inguinal hernia.

Journal of Nepal Health Research Council, 2015
Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death.
A, Rayamajhi, P J, Pokharel, R, Chapagain, A K, Rayamajhi   +3 more
openaire   +1 more source

Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)

, 2008
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus.
CHEN, CHIH-PING;LIN, SHUAN-PEI;TZEN, CHIN-YUAN;HWU, WUH-LIANG;CHERN, SCHU-RERN;WANG, WAY-SEEN, 陳持平;林炫沛;曾岐元;胡務亮;陳樹人;王偉信   +1 more
core  

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

Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan

, 2008
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 ...
HWU, WUH-LIANG, 胡務亮
core  

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome) [PDF]

, 2019
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28.
Ceci, Romina, Masllorens, F., Rozenfeld, P., Gal, A., Ilari, R., Cabrera, A., Amartino, H., Arberas, C., Dipierri, J., Specola, N., Bay, L.   +10 more
core  

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

Prolapsus mitral et mucopolysaccharidose type II. Observation de deux cas familiaux. [Mitral valve prolapse and type II mucopolysaccharidosis. Report of two familial cases]

, 2001
Type II mucopolysaccharidosis (Hunter's disease) is a hereditary condition due to a deficit of a lysosome specific hydrolase (iduronate sulfatase) inducing an accumulation of dermatane-sulphate and heparane-sulphate in certain organs. Cardiac involvement
Payot, M., Sekarski, N., Matthieu, J. M., Sonino, V.   +3 more
core   +1 more source

Pathogenetic mechanisms involved in neurodegeneration in mucopolysaccharidosis type IIIB: potential role of cytokines, neurotrophins, and oxidative stress [PDF]

, 2007
Gargiulo, Nadia
core   +1 more source