approach to lysosomal disorders
نویسندگان
چکیده
how to cite this article: zamani gh. approach to lysosomal disorders. iran j child neurol autumn 2012; 6:4(suppl. 1):3-4 pls see pdf.
منابع مشابه
Lysosomal disorders.
Although most lysosomal storage disorders present in infancy or early childhood with a progressive condition often associated with dysmorphism, considerable genetic heterogeneity exists resulting in a range of illnesses that can include a dramatic neonatal presentation. Whilst some conditions present with a characteristic neonatal phenotype (e.g. Niemann-Pick disease type C), the remainder pres...
متن کاملdiagnosis in lysosomal disorders
how to cite this article: shakiba m. diagnosis in lysosomal disorders. iran j child neurol autumn 2012; 6:4 (suppl. 1):15- 16. pls see pdf.
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15 صفحه اولImmunochemistry of lysosomal storage disorders.
BACKGROUND Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, an...
متن کاملLysosomal Storage Disorders and Malignancy
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased freque...
متن کاملTreatments for lysosomal storage disorders.
There are over 70 human diseases that are caused by defects in various aspects of lysosomal function. Until 20 years ago, the only specific therapy available for lysosomal storage disorders was allogeneic haemopoietic stem cell transplantation. Over the last two decades, there has been remarkable progress and there are now licensed treatments for seven of these diseases. In some cases, a choice...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۳-۴
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