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Neutral Lipid Storage Disease with Myopathy

Known as: NLSDM, Neutral Lipid Storage Disease without Ichthyosis 
 
National Institutes of Health

Papers overview

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2013
2013
Neutral lipid storage disease with myopathy (NLSDM) is caused by a mutation in the gene encoding adipose triglyceride lipase… Expand
2013
2013
Neutral lipid storage disease with myopathy (NLSDM) is a rare but severe genetic disorder characterized by excessive lipid… Expand
2013
2013
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder of neutral lipid metabolism. Clinical… Expand
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2013
2013
CONTEXT The role of adipose triglyceride lipase (ATGL) in intermediate substrates metabolism has not been fully elucidated in… Expand
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2012
2012
Neutral lipid storage disease with myopathy (NLSDM) referred to those neutral lipid storage disease (NLSD) patients with myopathy… Expand
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Highly Cited
2010
Highly Cited
2010
An 18-year-old girl referred to a rheumatologist with malar flush and Gottran papules was found to have a markedly elevated serum… Expand
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2010
2010
Neutral lipid storage disease with myopathy (NLSDM) is a type of lipid storage myopathy arising due to a mutation in the PNPLA2… Expand
Highly Cited
2009
Highly Cited
2009
Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine… Expand
Highly Cited
2008
Highly Cited
2008
CONTEXT The molecular mechanisms by which triglycerides in lipid droplets (LDs) are synthesized, stored, and degraded need to be… Expand
Highly Cited
2007
Highly Cited
2007
Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic… Expand
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