20232353 |
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
Valstar, MJ,
Bertoli-Avella, AM,
Wessels, MW,
Ruijter, GJ,
de Graaf, B,
Olmer, R,
Elfferich, P,
Neijs, S,
Kariminejad, R,
Suheyl Ezgü, F,
Tokatli, A,
Czartoryska, B,
Bosschaart, AN,
van den Bos-Terpstra, F,
Puissant, H,
Bürger, F,
Omran, H,
Eckert, D,
Filocamo, M,
Simeonov, E,
Willems, PJ,
Wevers, RA,
Niermeijer, MF,
Halley, DJ,
Poorthuis, BJ,
van Diggelen, OP
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Hum Mutat |
2010 |