نتایج جستجو برای: acute infantile gaucher disease

تعداد نتایج: 1877238  

Journal: :Journal of Medical Genetics 2004

Journal: :Radiologia Brasileira 2017

Journal: :American Journal of Roentgenology 1981

Journal: :Rambam Maimonides Medical Journal 2014

Journal: :Medical Journal Armed Forces India 2008

Journal: :World Journal of Gastroenterology 2021

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases

2014
Glenda M. Halliday Karen E. Murphy

Sir, McNeill highlights in his Letter to the Editor that glucocerebrosidase (GBA) gene mutation carriers have reduced glucosylceramidase protein and enzyme activity based on measurements obtained from patient fibroblasts (McNeill et al., 2014). He links this to our data recently presented in Murphy et al. (2014) identifying similar findings in brain regions associated with increased a-synuclein...

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