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JIMD Reports|February 23, 2013
Quality of life of brazilian patients with Gaucher disease and fabry diseaseFabiane Lopes Oliveira, Taciane Alegra, Alicia Dornelles, et al.JIMD Reports|February 23, 2013
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa diseaseVincenzo Leuzzi, Claudia Carducci, Flavia Chiarotti, et al.JIMD Reports|February 23, 2013
Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study on 34 italian Gaucher type I patientsLaura Deroma, Annalisa Sechi, Andrea Dardis, et al.JIMD Reports|February 23, 2013
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAEWaseem Fathalla, Elamin AhmedJIMD Reports|February 23, 2013
A pilot study of the effect of (e, e)-2, 4-undecadienal on the offensive odour of trimethylaminePankaj Garg, Kevin Carpenter, Shanley Chong, et al.JIMD Reports|February 23, 2013
Unexplained hypoglycemia during continuous nocturnal gastric drip-feeding in a patient with glycogen storage disease type ia: is it a dumping-like syndrome?A Brambilla, A Pozzoli, F Furlan, et al.JIMD Reports|February 23, 2013
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyC Bieneck Haglind, M Halldin Stenlid, S Ask, et al.JIMD Reports|February 23, 2013
Fabry disease in latin america: data from the fabry registryJ Villalobos, J M Politei, A M Martins, et al.JIMD Reports|February 23, 2013
A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of PhenylketonuriaMary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, et al.JIMD Reports|February 23, 2013
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiencyElena Vanadia, K Michael Gibson, Phillip L Pearl, et al.Pageof 127