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Seminars in Respiratory and Critical Care Medicine
Abstract Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal diseases (LDs) are a group of rare inherited diseases caused by deleterious variants affecting genes that encode the lysosomal enzymes, their transporter or their cofactor.
Jacopo Cefalo +6 more
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Abstract Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal diseases (LDs) are a group of rare inherited diseases caused by deleterious variants affecting genes that encode the lysosomal enzymes, their transporter or their cofactor.
Jacopo Cefalo +6 more
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2017
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems ...
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The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems ...
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Therapy for lysosomal storage disorders
IUBMB Life, 2009AbstractIn the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications.
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Treatments for lysosomal storage disorders
Biochemical Society Transactions, 2010There are over 70 human diseases that are caused by defects in various aspects of lysosomal function. Until 20 years ago, the only specific therapy available for lysosomal storage disorders was allogeneic haemopoietic stem cell transplantation. Over the last two decades, there has been remarkable progress and there are now licensed treatments for seven
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The Lancet Gastroenterology and Hepatology, 2017
M. Pericleous +4 more
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M. Pericleous +4 more
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Lysosomal Storage Disorders and Iron
2013Lysosomal storage disorders are a group of about 50 rare metabolic diseases that result from defects in lysosomal function. The majority is recessively inherited and caused by mutations in genes encoding lysosomal proteins as the basis for its pathobiology.
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