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Glycopeptidosis: A new inherited disorder of glycoconjugate metabolism affecting the central nervous system
Author(s) -
Federico A.,
Guazzi G.,
Fruschelli C.,
Palladini G.,
MedoloagoAlbani L.,
Michalski J. C.,
Strecker G.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263630
Subject(s) - glycoconjugate , urine , central nervous system , epilepsy , metabolism , glycoprotein , endocrinology , medicine , myoclonus , excretion , biology , bioinformatics , biochemistry , psychiatry
A patient with progressive neurological deterioration and myoclonus epilepsy showed an increased excretion of glycoprotein in the urine and storage material in lymphocytes and fibroblasts. This is probably a new disorder of glycoprotein metabolism.