Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G.A., McCracken, E., Conway, R., Enns, G.M., Starr, J., Wang, R., Abdenur, J.E., Sanchez-de-Toledo, J., Marsden, D.L.
Published in Molecular genetics and metabolism (01.11.2016)
Published in Molecular genetics and metabolism (01.11.2016)
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Journal Article
Management of methylmalonic acidaemia by combined liver–kidney transplantation
Nagarajan, S., Enns, G. M., Millan, M. T., Winter, S., Sarwal, M. M.
Published in Journal of inherited metabolic disease (01.08.2005)
Published in Journal of inherited metabolic disease (01.08.2005)
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Journal Article
Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
Enns, G.M., Koch, R., Brumm, V., Blakely, E., Suter, R., Jurecki, E.
Published in Molecular genetics and metabolism (01.10.2010)
Published in Molecular genetics and metabolism (01.10.2010)
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Journal Article
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
Gallant, N.M., Leydiker, K., Wilnai, Y., Lee, C., Lorey, F., Feuchtbaum, L., Tang, H., Carter, J., Enns, G.M., Packman, S., Lin, H.J., Wilcox, W.R., Cederbaum, S.D., Abdenur, J.E.
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
Wong, L-J C, Perng, C-L, Hsu, C-H, Bai, R-K, Schelley, S, Vladutiu, G D, Vogel, H, Enns, G M
Published in Journal of medical genetics (01.11.2003)
Published in Journal of medical genetics (01.11.2003)
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Journal Article
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle
Enns, GM, Hoppel, CL, DeArmond, SJ, Schelley, S, Bass, N, Weisiger, K, Horoupian, D, Packman, S
Published in Clinical genetics (01.10.2005)
Published in Clinical genetics (01.10.2005)
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Journal Article
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin
Enns, G. M., Barkovich, A. J., Rosenblatt, D. S., Fredrick, D. R., Weisiger, K., Ohnstad, C., Packman, S.
Published in Journal of inherited metabolic disease (01.06.1999)
Published in Journal of inherited metabolic disease (01.06.1999)
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Journal Article
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency
Enns, G. M., Barkovich, A. J., Kuilenburg, A. B. P., Manning, M., Sanger, T., Witt, D. R., Gennip, A. H.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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Journal Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Journal Article
Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity
Gramatges, M M, Dvorak, C C, Regula, D P, Enns, G M, Weinberg, K, Agarwal, R
Published in Bone marrow transplantation (Basingstoke) (01.10.2009)
Published in Bone marrow transplantation (Basingstoke) (01.10.2009)
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Journal Article
Clinical course and biochemistry of sialuria
Enns, G. M., Seppala, R., Musci, T. J., Weisiger, K., Ferrell, L. D., Wenger, D. A., Gahl, W. A., Packman, S.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
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Journal Article
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Enns, Gregory M., Bennett, Michael J., Hoppel, Charles L., Goodman, Stephen I., Weisiger, Kara, Ohnstad, Carol, Golabi, Mahin, Packman, Seymour
Published in The Journal of pediatrics (01.02.2000)
Published in The Journal of pediatrics (01.02.2000)
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Journal Article
Congenital disorder of glycosylation Ic in patients of Indian origin
Newell, J.W, Seo, N.-S, Enns, G.M, McCraken, M, Mantovani, J.F, Freeze, H.H
Published in Molecular genetics and metabolism (01.07.2003)
Published in Molecular genetics and metabolism (01.07.2003)
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Journal Article
Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy
Yuan, N, El-Sayed, Y Y, Ruoss, S J, Riley, E, Enns, G M, Robinson, T E
Published in Journal of Perinatology (01.02.2009)
Published in Journal of Perinatology (01.02.2009)
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Journal Article
Molecular correlations in phenylketonuria : Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
ENNS, G. M, MARTINEZ, D. R, KUZMIN, A. I, KOCH, R, WAKEEM, C. K, WOO, S. L. C, EISENSMITH, R. C, PACKMAN, S
Published in Pediatric research (01.11.1999)
Published in Pediatric research (01.11.1999)
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Journal Article
82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE
Cusmano-Ozog, K., Lorey, F., Levine, S., Martin, M., Nicholas, E., Packman, S., Rosenblatt, D. S., Cowan, T. M., Enns, G. M.
Published in Journal of investigative medicine (01.01.2007)
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Published in Journal of investigative medicine (01.01.2007)
Journal Article
Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion
Adam, Margaret P., Manning, Melanie A., Beck, Anita E., Kwan, Andrea, Enns, Gregory M., Clericuzio, Carol, Hoyme, H. Eugene
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
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Journal Article