rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
1-2
|
pubmed:dateCreated |
2009-2-2
|
pubmed:abstractText |
Variable increases in the plasma activity of different lysosomal enzymes have been reported in patients with congenital disorders of glycosylation (CDG). In particular, elevated plasma aspartylglucosaminidase activity (AGA) has been found in the majority of CDG type I patients. We report on the plasma activity of AGA and other lysosomal enzymes in patients with different types of primary and secondary CDG defects.
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Mar
|
pubmed:issn |
1873-3492
|
pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:volume |
401
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
81-3
|
pubmed:meshHeading |
pubmed-meshheading:19100247-Adolescent,
pubmed-meshheading:19100247-Aspartylglucosylaminase,
pubmed-meshheading:19100247-Child,
pubmed-meshheading:19100247-Child, Preschool,
pubmed-meshheading:19100247-Fructose Intolerance,
pubmed-meshheading:19100247-Fructose Metabolism, Inborn Errors,
pubmed-meshheading:19100247-Galactosemias,
pubmed-meshheading:19100247-Glycosylation,
pubmed-meshheading:19100247-Humans,
pubmed-meshheading:19100247-Infant,
pubmed-meshheading:19100247-Lysosomes,
pubmed-meshheading:19100247-alpha-Mannosidase,
pubmed-meshheading:19100247-beta-Mannosidase,
pubmed-meshheading:19100247-beta-N-Acetylhexosaminidases
|
pubmed:year |
2009
|
pubmed:articleTitle |
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
|
pubmed:affiliation |
Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece. inchildh@otenet.gr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|