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Defining the Phenotype in Congenital Disorder of Glycosylation Due to <i>ALG1</i> MutationsÉva Morava, Ron A. Wevers, Chike Bellarmine Item et al.|PEDIATRICS|2012Cited by 43
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and AustriaKristina Anna Strnadová, Wolfgang Sperl, Felix Votava et al.|European Journal of Pediatrics|2006Cited by 30
Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-Controlled TrialMichael Freilinger, Olaf A. Bodamer, Daniela Dunkler et al.|Journal of Developmental & Behavioral Pediatrics|2011Cited by 25
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia IIIChike Bellarmine Item, Olaf A. Bodamer, Ivana Mihalek et al.|Molecular Genetics and Metabolism|2007Cited by 24