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Journal of Inherited Metabolic Disease|July 13, 2011
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and managementNuria Carrillo-Carrasco, Randy J Chandler, Charles P VendittiJournal of Inherited Metabolic Disease|November 12, 2010
Exacerbation of erythropoietic protoporphyria by hyperthyroidismElisabeth I Minder, Andreas R Haldemann, Xiaoye Schneider-YinJournal of Inherited Metabolic Disease|November 17, 2010
Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophyNicholas J Smith, Robert E Marcus, Barbara J Sahakian, et al.Journal of Inherited Metabolic Disease|April 19, 2011
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patientsMaría-Socorro Pérez-Poyato, Montserrat Milà Recansens, Isidre Ferrer Abizanda, et al.Journal of Inherited Metabolic Disease|May 11, 2011
Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative dataJennifer Cialone, Erika F Augustine, Nicole Newhouse, et al.Journal of Inherited Metabolic Disease|March 9, 2011
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylationLuisa Sturiale, Rita Barone, Domenico GarozzoJournal of Inherited Metabolic Disease|March 9, 2011
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?Pilar Giraldo, Jose Luis Capablo, Pilar Alfonso, et al.Journal of Inherited Metabolic Disease|January 1, 1990
Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease)L Toma, W Pinto, V C Rodrigues, et al.Journal of Inherited Metabolic Disease|October 6, 2011
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T)Hatim Y Ebrahim, Robert J Baker, Atul B Mehta, et al.Journal of Inherited Metabolic Disease|December 15, 2011
Long-term outcome and intervention of urea cycle disorders in JapanJun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi, et al.Pageof 429