Results 251 to 260 of about 25,002 (280)
Some of the next articles are maybe not open access.
Sphingolipid lysosomal storage disorders
Nature, 2014Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is the accumulation, or storage, of macromolecules in the late endocytic system. They are monogenic disorders that occur at a collective frequency of 1 in 5,000 live births and are caused by inherited defects in genes that mainly encode lysosomal proteins, most commonly ...
openaire +2 more sources
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.
openaire +2 more sources
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
openaire +2 more sources
2015
The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
Radhika Dhamija, Lily C. Wong-Kisiel
openaire +3 more sources
The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
Radhika Dhamija, Lily C. Wong-Kisiel
openaire +3 more sources
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.
openaire +2 more sources
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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
PSEUDODEFICIENCIES IN LYSOSOMAL STORAGE DISORDERS
The Lancet, 1985J, Zlotogora, G, Bach
openaire +2 more sources