G M Enns

Summary

Affiliation: Stanford University
Country: USA

Publications

  1. doi request reprint Initial experience in the treatment of inherited mitochondrial disease with EPI-743
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 105:91-102. 2012
  2. ncbi request reprint The adolescent with an inborn error of metabolism: medical issues and transition to adulthood
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
    Adolesc Med 13:315-29, vii. 2002
  3. doi request reprint Central nervous system therapy for lysosomal storage disorders
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, USA
    Neurosurg Focus 24:E12. 2008
  4. ncbi request reprint Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive H 315, Stanford, CA 94305 5208, USA
    Mol Genet Metab 88:364-71. 2006
  5. ncbi request reprint Clinical course and biochemistry of sialuria
    G M Enns
    Department of Pediatrics, Stanford University, California 94305 5208, USA
    J Inherit Metab Dis 24:328-36. 2001
  6. ncbi request reprint Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children s Hospital, Stanford, CA 94305 5208, USA
    N Engl J Med 356:2282-92. 2007
  7. doi request reprint Cell-based therapies for metabolic liver disease
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA, 94305 5208, USA
    Mol Genet Metab 95:3-10. 2008
  8. doi request reprint Neurologic damage and neurocognitive dysfunction in urea cycle disorders
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305, USA
    Semin Pediatr Neurol 15:132-9. 2008
  9. doi request reprint Nitrogen sparing therapy revisited 2009
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 100:S65-71. 2010
  10. doi request reprint Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence
    G M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 101:99-109. 2010

Collaborators

Detail Information

Publications29

  1. doi request reprint Initial experience in the treatment of inherited mitochondrial disease with EPI-743
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 105:91-102. 2012
    ..Furthermore, HMPAO SPECT imaging may be a valuable tool for the detection of central nervous system redox defects and for monitoring response to treatments directed at modulating abnormal redox...
  2. ncbi request reprint The adolescent with an inborn error of metabolism: medical issues and transition to adulthood
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
    Adolesc Med 13:315-29, vii. 2002
    ....
  3. doi request reprint Central nervous system therapy for lysosomal storage disorders
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, USA
    Neurosurg Focus 24:E12. 2008
    ....
  4. ncbi request reprint Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive H 315, Stanford, CA 94305 5208, USA
    Mol Genet Metab 88:364-71. 2006
    ....
  5. ncbi request reprint Clinical course and biochemistry of sialuria
    G M Enns
    Department of Pediatrics, Stanford University, California 94305 5208, USA
    J Inherit Metab Dis 24:328-36. 2001
    ..We recommend close monitoring of liver and pulmonary function in sialuria patients...
  6. ncbi request reprint Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children s Hospital, Stanford, CA 94305 5208, USA
    N Engl J Med 356:2282-92. 2007
    ..The combination of intravenous sodium phenylacetate and sodium benzoate has been shown to lower plasma ammonium levels and improve survival in small cohorts of patients with historically lethal urea-cycle enzyme defects...
  7. doi request reprint Cell-based therapies for metabolic liver disease
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA, 94305 5208, USA
    Mol Genet Metab 95:3-10. 2008
    ..Cell-based therapies, including those based on stem cells or more differentiated progenitor cells, may represent the future of cell transplantation for treatment of metabolic liver disease...
  8. doi request reprint Neurologic damage and neurocognitive dysfunction in urea cycle disorders
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305, USA
    Semin Pediatr Neurol 15:132-9. 2008
    ....
  9. doi request reprint Nitrogen sparing therapy revisited 2009
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 100:S65-71. 2010
    ..The early identification of UCD patients so that transport to a metabolic treatment center may be carried out without delay continues to be a major area of focus and challenge...
  10. doi request reprint Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence
    G M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 101:99-109. 2010
    ....
  11. ncbi request reprint Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle
    G M Enns
    Department of Pediatrics, Stanford University, Stanford, CA 94305 5208, USA
    Clin Genet 68:337-48. 2005
    ....
  12. ncbi request reprint The contribution of mitochondria to common disorders
    Gregory M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H 315, Stanford, CA 94305 5208, USA
    Mol Genet Metab 80:11-26. 2003
    ..Understanding the role mitochondrial dysfunction plays in the pathogenesis of common disorders has provided unique insights into a number of diseases and offers hope for potential new therapies...
  13. ncbi request reprint Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency
    G M Enns
    Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H 315, Stanford, CA 94305 5208, USA
    J Inherit Metab Dis 27:513-22. 2004
    ..In order to define more clearly the contribution of DPD deficiency to the pathogenesis of these MRI abnormalities, we recommend performing detailed analysis of urine pyrimidine metabolites in patients who have such findings...
  14. ncbi request reprint Postpartum "psychosis" in mild argininosuccinate synthetase deficiency
    Gregory M Enns
    Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California 94305 5208, USA
    Obstet Gynecol 105:1244-6. 2005
    ..Urea cycle disorders are relatively rare but well-established causes of postpartum coma and death. Such clinical presentations have been reported previously in ornithine transcarbamylase and carbamyl phosphate synthetase deficiencies...
  15. pmc Mapping gene associations in human mitochondria using clinical disease phenotypes
    Curt Scharfe
    Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA
    PLoS Comput Biol 5:e1000374. 2009
    ..The accompanying knowledgebase (http://www.mitophenome.org/) supports the study of clinical diseases and associated genes...
  16. ncbi request reprint Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
    Susan R Hintz
    Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, California 94304, USA
    Mol Genet Metab 75:120-7. 2002
    ..However, timely analysis and reporting of results to clinicians are essential, because these disorders can manifest in the first few days of life...
  17. ncbi request reprint Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
    Melanie A Manning
    Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Pediatrics 114:451-7. 2004
    ....
  18. pmc Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia
    Kondala R Atkuri
    Department of Genetics, Stanford University, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 106:3941-5. 2009
    ..Furthermore, studies here suggest that antioxidant therapy may be useful for relieving the chronic oxidative stress that otherwise occurs in patients with mitochondrial dysfunction...
  19. ncbi request reprint Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion
    Margaret P Adam
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 123:72-8. 2003
    ....
  20. ncbi request reprint A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy
    B C Mobley
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Clin Neuropathol 28:143-9. 2009
    ..G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry...
  21. doi request reprint Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy
    N Yuan
    Department of Pediatrics, Center of Excellence in Pulmonary Biology Pulmonary Division, Stanford University Medical Center, Palo Alto, CA, USA
    J Perinatol 29:166-7. 2009
    ..A multidisciplinary team approach should be used in pregnant patients with these disorders with specific attention to management of pulmonary complications, selection of route of delivery, anesthesia, and analgesia...
  22. ncbi request reprint Management of methylmalonic acidaemia by combined liver-kidney transplantation
    S Nagarajan
    Pediatric Nephrology, Stanford University, California 94305 5208, USA
    J Inherit Metab Dis 28:517-24. 2005
    ....
  23. ncbi request reprint Mild developmental delay in terminal chromosome 6p deletion
    Kelly M Chen
    Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 129:201-5. 2004
    ..In an effort to define further the clinical variability of this condition, we report a 6-year-old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition...
  24. doi request reprint Progressive cerebral vascular degeneration with mitochondrial encephalopathy
    Nicola Longo
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 146:361-7. 2008
    ..The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear...
  25. doi request reprint Long-term outcome following pediatric liver transplantation for metabolic disorders
    Terrell Stevenson
    Department of Surgery, Stanford University, Stanford, CA, USA
    Pediatr Transplant 14:268-75. 2010
    ....
  26. ncbi request reprint Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4
    Omar A Abdul-Rahman
    Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA
    Am J Med Genet A 140:1567-72. 2006
    ..Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process...
  27. ncbi request reprint Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed
    Renata C Gallagher
    Department of Pediatrics, Division of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Mol Genet Metab 86:417-20. 2005
    ..The level of glutarylcarnitine was below the newborn screening program cut-off. This suggests that some cases of GA-I may be missed by newborn screening by tandem mass spectrometry...
  28. ncbi request reprint Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
    Joseph T C Shieh
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Pediatrics 118:e1485-92. 2006
    ..We sought to further characterize the phenotype and facilitate clinical recognition of systemic hyalinosis in children who present with chronic pain and progressive contractures in early childhood...
  29. doi request reprint Dopa-responsive dystonia presenting as delayed and awkward gait
    Benjamin N R Cheyette
    Department of Psychiatry, Center for Neurobiology and Psychiatry, University of California at San Francisco, San Francisco, California 94158 2324, USA
    Pediatr Neurol 38:273-5. 2008
    ..We present a male toddler with dopa-responsive dystonia caused by an autosomal-dominant GCH1 mutation. Three other family members were also found to carry the mutation, with widely different functional consequences...