Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network
نویسندگان
چکیده
منابع مشابه
Lysosomal 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...
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the aim of conducting this study was to investigate the foreign language learning needs of undergraduate economics students and business management students in faculties of social sciences of alzahra and azad naragh university. in the study, which was designed on the basis of a qualitative-quantitative basis using interviews and questionnaires, 146 female undergraduate business management as we...
15 صفحه اولThe face of lysosomal storage disorders in India: a need for early diagnosis.
OBJECTIVES To study the temporal pattern of lysosomal storage disorders (LSD) from onset of symptoms to the final diagnosis and to study the type and the frequency of the disease. METHODS Retrospective analysis of the case record forms of the patients attending the Genetic Clinic over a period of 12 y (January 2002- December 2013) was undertaken. Only the data of the patients who had confirma...
متن کاملImmunochemistry 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...
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ژورنال
عنوان ژورنال: Cardiogenetics
سال: 2013
ISSN: 2035-8148,2035-8253
DOI: 10.4081/cardiogenetics.2013.s1.e1