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Journal of Inherited Metabolic Disease|March 27, 2009
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiencyM Giżewska, G Hnatyszyn, L Sagan, et al.Journal of Inherited Metabolic Disease|November 30, 2013
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and managementJooho Lee, Robert A HegeleJournal of Inherited Metabolic Disease|April 10, 2009
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiencyW L Nyhan, M Willis, B A Barshop, et al.Journal of Inherited Metabolic Disease|November 11, 2008
Intravascular ultrasound assessment of coronary artery involvement in Fabry diseaseT Kovarnik, G S Mintz, D Karetova, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Uptake and metabolism of radiolabelled GM1-ganglioside in skin fibroblasts from controls and patients with GM1-gangliosidosisM Midorikawa, K Inui, S Okada, et al.Journal of Inherited Metabolic Disease|January 1, 1991
A comparative study of sialyloligosaccharides isolated from sialidosis and galactosialidosis urineJ Van Pelt, J P Kamerling, H D Bakker, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Bony changes of PKU neonates unrelated to phenylalanine levelsR O Fisch, S B Feinberg, S Weisberg, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Neonatal screening for biotinidase deficiency in east-HungaryZ HavassJournal of Inherited Metabolic Disease|May 12, 2010
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation studyDiana Ballhausen, Frédéric Guerry, Dagmar Hahn, et al.Journal of Inherited Metabolic Disease|May 12, 2010
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiencyJean-Louis DhondtPageof 429