Recognizable phenotypes in CDG

Ferreira, CR; Altassan, R; Marques-Da-Silva, D; Francisco, R; Jaeken, J; Morava, E

Morava, E (reprint author), Univ Hosp Leuven, Metab Ctr, Dept Pediat, Herestr 49, B-3000 Leuven, Belgium.; Morava, E (reprint author), Katholieke Univ Leuven, Fac Med, Dept Dev & Regenerat, Leuven, Belgium.; Morava, E (reprint author), Mayo Clin, Ctr Indi

JOURNAL OF INHERITED METABOLIC DISEASE, 2018; 41 (3): 541

Abstract

Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of thi......

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