Results 91 to 100 of about 12,452,915 (192)

Mucopolysaccharidosis type II (Hunter syndrome) – A case report [PDF]

, 2017
Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a defect in themetabolism of glycosaminoglycans (GAGs).
Jyotsna, Shrivastava, Amit, Agrawal
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Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +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
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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  

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

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

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

, 2014
To assess oral manifestations of 17 patients with mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy ...
Uttarilli, Anusha, Tanpaiboon, Pranoot, DALAL, Ashwin, Guven, Yeliz, Piranit Nik Kantaputra, KANTAPUTRA, Warissara, Hülya Kayserili, Pranoot Tanpaiboon, Ashwin Dalal, Balci, Mehmet Cihan, Warissara Kantaputra, Mehmet C. Balci, Anusha Uttarilli, KANTAPUTRA, Piranit Nik, Kayserili, Hulya, Yeliz Güven   +15 more
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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
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遺伝性ムコ多糖代謝異常症II型 (Hunter病) の分子生物学的研究 I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^<1327> to T substitution in the iduronate sulfatase gene. II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

博士論文 (Doctoral dissertation)I) Intermediate form of mucopolysaccharidosis type II (Hunter disease) : a C^ to T substitution in the iduronate sulfatase gene.II) Mucopolysaccharidosis type II (Hunter disease) : identification and characterization of eight ...
祐川, 和子
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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
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