Research Topics
| G M EnnsSummaryAffiliation: Stanford University Country: USA Publications
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Publications
Initial experience in the treatment of inherited mitochondrial disease with EPI-743Gregory 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...- The adolescent with an inborn error of metabolism: medical issues and transition to adulthoodGregory 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.... - Central nervous system therapy for lysosomal storage disordersGregory M Enns
Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, USA
Neurosurg Focus 24:E12. 2008.... - Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant loadGregory 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.... - Clinical course and biochemistry of sialuriaG 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... - Survival after treatment with phenylacetate and benzoate for urea-cycle disordersGregory 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... - Cell-based therapies for metabolic liver diseaseGregory 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... - Neurologic damage and neurocognitive dysfunction in urea cycle disordersGregory 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.... - Nitrogen sparing therapy revisited 2009Gregory 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... - Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidenceG 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.... - Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscleG M Enns
Department of Pediatrics, Stanford University, Stanford, CA 94305 5208, USA
Clin Genet 68:337-48. 2005.... - The contribution of mitochondria to common disordersGregory 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... - Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiencyG 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... - Postpartum "psychosis" in mild argininosuccinate synthetase deficiencyGregory 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... - Mapping gene associations in human mitochondria using clinical disease phenotypesCurt 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... - Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficienciesSusan 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... - Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrumMelanie 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.... - Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemiaKondala 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... - Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret 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.... - A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathyB 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... - Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathyN 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... - Management of methylmalonic acidaemia by combined liver-kidney transplantationS Nagarajan
Pediatric Nephrology, Stanford University, California 94305-5208, USA
J Inherit Metab Dis 28:517-24. 2005.... - Mild developmental delay in terminal chromosome 6p deletionKelly 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... - Progressive cerebral vascular degeneration with mitochondrial encephalopathyNicola 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... - Long-term outcome following pediatric liver transplantation for metabolic disordersTerrell Stevenson
Department of Surgery, Stanford University, Stanford, CA, USA
Pediatr Transplant 14:268-75. 2010.... - Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar 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... - Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missedRenata 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... - 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..Early recognition of affected individuals should allow for aggressive pain control and expectant management of the multiple associated problems, including gastrointestinal dysfunction... - Dopa-responsive dystonia presenting as delayed and awkward gaitBenjamin 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...