Identifying Treatable Lysosomal Storage Disorders: The Importance of Early Diagnosis
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چکیده
منابع مشابه
The 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...
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.
متن کاملPrevalence of lysosomal storage disorders.
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of resources from health care systems; how...
متن کاملLysosomal storage disorders: The cellular impact of lysosomal dysfunction
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which lead to abnormal storage of macromolecular substrates. Valuable insights into lysosome functions have emerged from research into these diseases. ...
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ژورنال
عنوان ژورنال: Paediatrics & Child Health
سال: 2009
ISSN: 1205-7088,1918-1485
DOI: 10.1093/pch/14.suppl_b.6