نتایج جستجو برای: lysosomal disorders

تعداد نتایج: 684439  

Journal: :Pediatrics 2009
Orna Staretz-Chacham Tess C Lang Mary E LaMarca Donna Krasnewich Ellen Sidransky

Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal ...

Journal: :Physiology 2010
Emma J Parkinson-Lawrence Tetyana Shandala Mark Prodoehl Revecca Plew Glenn N Borlace Doug A Brooks

The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept. Here, we review some of the history and pathophysiology of lysosomal storage disorders to show how they have impacted on our knowledge of lysosomal biology. Although a significant amount of information has been acc...

Journal: :Journal of Clinical Pathology 1985

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید