Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Comparison methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial
