نتایج جستجو برای: i mucopolysaccharidosis i

تعداد نتایج: 1040570  

Journal: :International Journal of Molecular Sciences 2016

2018
Gé-Ann Kuiper Olga L. M. Meijer Eveline J. Langereis Frits A. Wijburg

BACKGROUND Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis...

Journal: :Orphanet Journal of Rare Diseases 2017

Journal: :iranian journal of child neurology 0
mohammad abdi 1.department of clinical biochemistry, faculty of medical sciences, tarbiat modares university, tehran, iran mohammad said hakhamaneshi 2.department of biochemistry and nutrition, faculty of medicine, kurdistan university of medical sciences, sanandaj, iran mohammad reza alaei 3. department of pediatric, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran namam-ali azadi 4.department of epidemiology and biostatistics, faculty of medicine, kurdistan university of medical sciences, sanandaj, iran rahim vakili 5.department of pediatrics, imam reza hospital, mashhad university of medical sciences, mashhad, iran daniel zamanfar 6.department of pediatric, faculty of medicine, mazandaran university of medical sciences, sari, iran

how to cite this article: abdi m, khatami sh, hakhamaneshi ms, alaei mr, azadi na, zamanfar d, taghikhani m.validation of urinary glycosaminiglycans in iranian patients with mucopolysaccharidose type i: the effect of urine sedimentation characteristics. iran j child neurol. 2014; 8(4):39-45.   abstract objective the first line-screening test for mucopolysaccharidosis is based on measurement of ...

Journal: :N.N. Priorov Journal of Traumatology and Orthopedics 2018

Journal: :Journal of South Asian Federation of Obstetrics and Gynaecology 2013

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