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Journal of Inherited Metabolic Disease|January 1, 1994
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondriaJ Smeitink, W Ruitenbeek, R Sengers, et al.Journal of Inherited Metabolic Disease|January 1, 1994
The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphismL Lacerda, O Amaral, R Pinto, et al.Journal of Inherited Metabolic Disease|January 7, 2010
The monitoring of trace elements in blood samples from patients with inborn errors of metabolismMireia Tondo, Nilo Lambruschini, Lilianne Gomez-Lopez, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Identification of GM2-gangliosidosis B1 variant carriersM G Ribeiro, R Pinto, P Oliveira, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Gestational carrier--a reproductive haven for offspring of mothers with phenylketonuria (PKU): an alternative therapy for maternal PKUR O Fisch, G Tagatz, J P StassartJournal of Inherited Metabolic Disease|January 1, 1993
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblastsS Milstien, S Kaufman, N SakaiJournal of Inherited Metabolic Disease|January 1, 1993
Diagnosis and prevention of lysosomal storage diseases in RussiaK D Krasnopolskaya, T V Mirenburg, E L Aronovich, et al.Journal of Inherited Metabolic Disease|January 6, 2010
Disease severity in sibling pairs with type 1 Gaucher diseaseDeborah Elstein, Ayelet Gellman, Gheona Altarescu, et al.Journal of Inherited Metabolic Disease|January 9, 2010
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorderSing-Chung Li, Chiao-Ming Chen, Jennifer L Goldstein, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disordersR D Holmes, K H Moore, J P Ofenstein, et al.Pageof 429