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Journal of Inherited Metabolic Disease|June 16, 2010
High frequencies of biotinidase (BTD) gene mutations in the Hungarian populationIlona Milánkovics, Krisztina Németh, Csilla Somogyi, et al.Journal of Inherited Metabolic Disease|June 16, 2010
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin AmericaBelén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, et al.Journal of Inherited Metabolic Disease|August 18, 2010
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European populationOlaf Sommerburg, Martin Lindner, Martina Muckenthaler, et al.Journal of Inherited Metabolic Disease|May 6, 2010
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduriaChristina B Pedersen, Zarazuela Zolkipli, Søren Vang, et al.Journal of Inherited Metabolic Disease|October 22, 2008
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patientsS F Dobrowolski, A L Pey, R Koch, et al.Journal of Inherited Metabolic Disease|October 22, 2008
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storageR Y Wang, J T Abe, A H Cohen, et al.Journal of Inherited Metabolic Disease|October 22, 2008
A Brazilian galactosialidosis patient given renal transplantation: a case reportA Kiss, P R G Zen, V Bittencourt, et al.Journal of Inherited Metabolic Disease|October 17, 2008
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuriaF Porta, I Roato, A Mussa, et al.Journal of Inherited Metabolic Disease|October 25, 2008
On the nomenclature of congenital disorders of glycosylation (CDG)J Jaeken, T Hennet, H H Freeze, et al.Journal of Inherited Metabolic Disease|January 1, 1990
Culture of galactosaemic fibroblasts in the presence of galactose: effect of inosineM L Pourci, M Mangeot, T Soni, et al.Pageof 429