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Neonatal manifestation of multiple sulfatase deficiency

✍ Scribed by Andreas Busche; Julia B. Hennermann; Friederike Bürger; Hans Proquitté; Thomas Dierks; Annabel von Arnim-Baas; Denise Horn

Book ID
106121708
Publisher
Springer
Year
2008
Tongue
English
Weight
142 KB
Volume
168
Category
Article
ISSN
0340-6997

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Urinary acid mucopolysaccharides in Mult
Urinary acid mucopolysaccharides in Multiple Sulfatase Deficiency (Mucosulfatidosis)
✍ Yoshikatsu Eto; Shunsuke Numaguchi; Teruo Handa 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 278 KB

Urinary acid mucopolysaccharides (AMPS) excretion was investigated in a Japanese case with Multiple Sulfatase Deficiency (MSD) (Mucosulfatidosis). The patient excreted AMPS 4 to 5 times more (as carbazoluronic acid) than controls. The cellulose acetate gel electrophoresis clearly indicated two major