| | | | | | | | |
Herskhovitz E | et al. | Bone marrow transplantatin for Maroteaux-Lamy syndrome (MPS VI): long-term follow up | J Inherit Metab Dis | | 22 | 0 | 50-62 | 1999 |
Ohura T | et al. | Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics | J Inherit Metab Dis | | 22 | 0 | 74-80 | 1999 |
Kuery S, | et al. | Clinical utility gene card for: acrodermatitis enteropathica - update 2015 | Eur J Hum Genet | | 24 | 5 | | 2015 |
Libert R | et al. | Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency | J Inherit Metab Dis | | 22 | 0 | 9-19 | 1999 |