Results 141 to 150 of about 11,815 (173)

Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment

Current Pharmaceutical Biotechnology, 2011
Mucopolysaccharidosis (MPS) type II (Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.
openaire   +2 more sources

Mucopolysaccharidosis type II

Acta Paediatrica, 2007
Froissart, R, Silva, IM, Maire, I
openaire   +3 more sources

UPDATE ON MUCOPOLYSACCHARIDOSIS TYPE II

Acta Paediatrica, 2007
Michael, Beck, Ed, Wraith
openaire   +2 more sources

Newborn screening for mucopolysaccharidosis type II

Molecular Genetics and Metabolism, 2023
Barbara K. Burton, Vera P. Shively, Allegra M. Quadri, Jennifer E. Burton, Katherine Christensen, Dorothy K. Grange, Daniel Groepper, Lauren Warn, Joan Ehrhardt, Laura Ashbaugh, Khaja Basheeruddin   +10 more
openaire   +1 more source

[Clinical aspects of mucopolysaccharidosis type II].

Revista de neurologia, 2008
To review the clinical and diagnostic aspects of mucopolysaccharidosis type II (Hunter syndrome).The different phenotypes are described and the multisystem clinical symptoms are considered, with special emphasis on skeletal deformities and cardiorespiratory and neurological complications.Paediatricians and certain specialists (in neurology, ORL ...
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An overview of real‐world data sources for oncology and considerations for research

Ca-A Cancer Journal for Clinicians, 2022
Lynne Penberthy, Donna R Rivera, Jennifer L Lund, Msph   +2 more
exaly  

Health insurance status and cancer stage at diagnosis and survival in the United States

Ca-A Cancer Journal for Clinicians, 2022
Jingxuan Zhao, Xuesong Han, Leticia M Nogueira   +2 more
exaly  

Mucopolysaccharidosis type II clinical case

Molecular Genetics and Metabolism, 2013
Ludmila Kuzenkova, Tatyana Podkletnova, Leyla Namazova-Baranova, Anna Gevorkyan, Nato Vashakmadze, Natalya Zhurkova, Nadezhda Nechaeva   +6 more
openaire   +1 more source

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome)

2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome).
Rigante, D, Segni, G, Ricci, R, Di Stasio, A, Caradonna, P   +4 more
openaire   +1 more source

An overview of precision oncology basket and umbrella trials for clinicians

Ca-A Cancer Journal for Clinicians, 2020
Kristian Thorlund, Edward J Mills
exaly