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Neonatal I‐cell disease: Clinical and biochemical observations
Author(s) -
Ohta H.,
Mori T.,
Eto Y.,
Maekawa K.
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/bf02263603
Subject(s) - sialic acid , urine , hexose , human genetics , excretion , urinary system , cell , disease , medicine , endocrinology , biochemistry , metabolic disease , chemistry , physiology , biology , enzyme , gene
Acid hydrolases have been determined in serum, urine and brain of a neonatal case of I‐cell disease. Hexosamine and hexose contents of several tissues were elevated and the urinary excretion of bound sialic acid was very much increased.