نتایج جستجو برای: chitotriosidase

تعداد نتایج: 246  

Journal: :Indian pediatrics 2015
Jayesh Sheth Mehul Mistri Riddhi Bhavsar Frenny Sheth Mahesh Kamate Heli Shah Chaitanya Datar

OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. DESIGN Review of medical records. SETTING Specialized Genetic Center. PARTICIPANTS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for diagnostic workup of various Lysosomal storage disorders (LSDs). METHODS Plasma chitotriosid...

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