SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Author:

Schlotawa Lars,Ennemann Eva Charlotte,Radhakrishnan Karthikeyan,Schmidt Bernhard,Chakrapani Anupam,Christen Hans-Jürgen,Moser Hugo,Steinmann Beat,Dierks Thomas,Gärtner Jutta

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference45 articles.

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2. Nyhan WL, Ozand PT : Atlas of Metabolic Diseases. London: Chapman and Hall Medical, 1998, pp 614–621.

3. Van der Knaap M, Valk J : Magnetic Resonance of Myelination and Myelin Disorders, 3 edn, Berlin, Heidelberg, New York: Springer, 2005, pp 82–86.

4. Eto Y, Gomibuchi I, Umezawa F, Tsuda T : Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. Enzyme 1987; 38: 273–279.

5. Perlmutter-Cremer N, Libert J, Vamos E, Spehl M, Liebaers I : Unusual early manifestation of multiple sulfatase deficiency. Ann Radiol (Paris) 1981; 24: 43–48.

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