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  1. No Access

    Article

    Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity

    M M Gramatges, C C Dvorak, D P Regula, G M Enns, K Weinberg… in Bone Marrow Transplantation (2009)

  2. No Access

    Article

    Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy

    We report a case study of a 22-year-old woman with mitochondrial thymidine kinase 2 deficiency and chronic respiratory failure due to severe neuromuscular weakness requiring noninvasive positive pressure venti...

    N Yuan, Y Y El-Sayed, S J Ruoss, E Riley, G M Enns, T E Robinson in Journal of Perinatology (2009)

  3. No Access

    Article

    Management of methylmalonic acidaemia by combined liver–kidney transplantation

    Methylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy with recurrent episodes of metabolic acidosis, developmental delay and failure to thriv...

    S. Nagarajan, G. M. Enns, M. T. Millan, S. Winter… in Journal of Inherited Metabolic Disease (2005)

  4. No Access

    Article

    Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency

    Summary: Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare autosomal recessive disorder of pyrimidine metabolism. Patients may present with a wide range of neurological symptoms during t...

    G. M. Enns, A. J. Barkovich… in Journal of Inherited Metabolic Disease (2004)

  5. No Access

    Article

    Clinical course and biochemistry of sialuria

    Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N-acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epi...

    G. M. Enns, R. Seppala, T. J. Musci, K. Weisiger… in Journal of Inherited Metabolic Disease (2001)

  6. No Access

    Article

    Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

    Cobalamin C (cblC) defects result in decreased activity of both methylmalonyl-CoA mutase and N5-methyltetrahydrofolate:homocysteine methyltransferase (methionine synthase), with subsequent methylmalonic acidur...

    G. M. Enns, A. J. Barkovich, D. S. Rosenblatt… in Journal of Inherited Metabolic Disease (1999)

  7. Article

    Clinical and Molecular Studies in Sialuria

    G M Enns, R Seppala, T J Musci, K Weisiger, L D Ferrell, D A Wenger… in Pediatric Research (1999)

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