Literature DB >> 6781400

Unusual early manifestation of multiple sulfatase deficiency.

N Perlmutter-Cremer, J Libert, E Vamos, M Spehl, I Liebaers.   

Abstract

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Year:  1981        PMID： 6781400

Source DB:  PubMed          Journal:  Ann Radiol (Paris)        ISSN： 0003-4185


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  5 in total

Review 1.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

2.  Multiple sulfatase deficiency with a novel biochemical presentation.

Authors:  G Constantopoulos
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

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

Authors:  Lars Schlotawa; Eva Charlotte Ennemann; Karthikeyan Radhakrishnan; Bernhard Schmidt; Anupam Chakrapani; Hans-Jürgen Christen; Hugo Moser; Beat Steinmann; Thomas Dierks; Jutta Gärtner
Journal:  Eur J Hum Genet       Date:  2011-01-12       Impact factor: 4.246

4.  Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Authors:  Lars Schlotawa; Thomas Dierks; Sophie Christoph; Eva Cloppenburg; Andreas Ohlenbusch; G Christoph Korenke; Jutta Gärtner
Journal:  JIMD Rep       Date:  2019-08-20

5.  A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Authors:  Orna Staretz-Chacham; Lars Schlotawa; Ohad Wormser; Inbal Golan-Tripto; Ohad S Birk; Carlos R Ferreira; Thomas Dierks; Karthikeyan Radhakrishnan
Journal:  Mol Genet Genomic Med       Date:  2020-02-12       Impact factor: 2.183
  5 in total

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