Mirjam M. C. Wamelink
AuthID: R-00F-MY8
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TITLE: First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? Full Text
AUTHORS: Mirjam M C Wamelink; Ruben J J F Ramos; Annette P M van den Elzen; George J G Ruijter; Ramon Bonte; Luisa Diogo; Paula Garcia; Nelson Neves; Benjamin Nota; Arvand Haschemi; Isabel Tavares de Almeida; Gajja S Salomons;
PUBLISHED: 2015, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 5
AUTHORS: Mirjam M C Wamelink; Ruben J J F Ramos; Annette P M van den Elzen; George J G Ruijter; Ramon Bonte; Luisa Diogo; Paula Garcia; Nelson Neves; Benjamin Nota; Arvand Haschemi; Isabel Tavares de Almeida; Gajja S Salomons;
PUBLISHED: 2015, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 5
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TITLE: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7