نتایج جستجو برای: lysosomal storage

تعداد نتایج: 196223  

Journal: :Journal of Nepal Medical Association 2009

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1995

Journal: :British Journal of Haematology 2005

2012
Frances M. Platt Barry Boland Aarnoud C. van der Spoel

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. ...

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh

how to cite this article: karimzadeh p. fabery disease (a kind of lysosomal storage disease). iran j child neurol autumn 2012; 6:4(suppl. 1):6. pls see pdf.

2010
Doug A. Brooks Emma J. Parkinson-Lawrence Tetyana Shandala Mark Prodoehl

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Journal: :Annals of Translational Medicine 2018

Journal: :Trends in Neurosciences 2011

Journal: :Cold Spring Harbor Perspectives in Biology 2011

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