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Neonatal multiple sulphatase deficiency disorder biochemical characterization
Author(s) -
Eto Y.,
Tokoro T.,
Kureha Y.,
Koda N.,
Tada Y.,
Tahara T.,
Maekawa K.,
Liebaers I.,
Vamos E.
Publication year - 1982
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/bf02179152
Subject(s) - medicine , endocrinology , metabolic disorder , pediatrics
Recently, Vamos et al. (1981) reported that the clinical features in the neonatal onset form of multiple sulphatase deficiency (MSD) were much more pro nounced than those of the usual type of MSD. The activities of arylsulphatases A, B and C in the patient's cultured skin fibroblasts were greatly reduced. This paper characterizes the biochemical features of neonatal MSD and distinguishes this disorder from typical MSD.