Prevalence (%) of clinical parameters based on data from 2 references describing 12 individuals
Add new symptom/sign to this disease
List of symptoms
List of references:
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Lars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, Hans-JÃ¼rgen Christen, Hugo Moser, Beat Steinmann, Thomas Dierks, Jutta GÃ¤rtner,
European journal of human genetics : EJHG - Mar 2011
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
UluÃ§ YiÅ, Stefano Pepe, Semra Hiz Kurul, Andrea Ballabio, Maria Pia Cosma, Eray Dirik,
Brain & development - May 2008