Dr. Gregory Mark Enns M.D.

Treatments

• Heart Disease
• Epilepsy
• Learning Disabilities
• Birth Defects

Publications

• Jourl of chromatography. B, Alytical technologies in the biomedical anA new LC-MS/MS method for the clinical determition of reduced and oxidized glutathione from whole2013
• MOLECULAR GENETICS AND METABOLISMBrain uptake of Tc99m2012
• MITOCHONDRIONLeigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tR isoleucine2012
• MOLECULAR GENETICS AND METABOLISMInitial experience in the treatment of inherited mitochondrial disease with EPI-7432012
• PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMHigh-quality D sequence capture of 524 disease candidate genes2011
• JOURL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITIONNovel Deoxyguanosine Kise Gene Mutations2009
• PLOS COMPUTATIOL BIOLOGYMapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes2009
• PROCEEDINGS OF THE TIOL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMInherited disorders affecting mitochondrial function are associated with glutathione deficiency2009
• NEW ENGLAND JOURL OF MEDICINESurvival after treatment with phenylacetate and benzoate for urea-cycle disorders2007
• MOLECULAR GENETICS AND METABOLISMMolecular-clinical correlations in a family with variable tissue mitochondrial D T8993G mutant load2006
• CLINICAL GENETICSRelationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities2005
• MOLECULAR GENETICS AND METABOLISMThe contribution of mitochondria to common disorders2003
• JOURL OF PEDIATRICSMitochondrial respiratory chain complex I deficiency with clinical2000
• PEDIATRIC TRANSPLANTATIONLiver transplantation for urea cycle disorders in pediatric patients: A single-center experience2013
• AMERICAN JOURL OF MEDICAL GENETICS PART AAtypical Amyoplasia Congenita in an Infant With Leigh Syndrome2012
• PEDIATRIC TRANSPLANTATIONPropionic acidemia: To liver transplant or not to liver transplant?2012
• MOLECULAR GENETICS AND METABOLISMtural history of propionic acidemia2012
• PSYCHOPHARMACOLOGYLength of pretal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants2011
• BIOORGANIC & MEDICIL CHEMISTRY LETTERSalpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging2011
• Niemi, A. K., Cusmano-Ozog, K., Rosenblatt, D. S., Enns, G. M.Long-term follow-up of a patient with early onset CBLG disease2011
• MOLECULAR GENETICS AND METABOLISMSuboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence2010
• PEDIATRIC TRANSPLANTATIONLong-term outcome following pediatric liver transplantation for metabolic disorders2010
• Enns, G. M.Nitrogen sparing therapy revisited 20092010
• BONE MARROW TRANSPLANTATIONPathological evidence of Wolman's dise2009
• JOURL OF PEDIATRIC HEMATOLOGY ONCOLOGYHypoplastic Glomerulocystic Kidney Disease2009
• CLINICAL NEUROPATHOLOGYA novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy2009
• JOURL OF PERITOLOGYSuccessful pregncy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy2009
• SEMIRS IN PEDIATRIC NEUROLOGYNeurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders2008
• MOLECULAR GENETICS AND METABOLISMCell-based therapies for metabolic liver disease2008
• NEUROSURGICAL FOCUSCentral nervous system therapy for lysosomal storage disorders2008
• JOURL OF NEUROSURGERYGlutaric acidemia type I: a neurosurgical perspective2007
• PEDIATRICSSystemic hyalinosis: A distinctive early childhood2006
• AMERICAN JOURL OF MEDICAL GENETICS PART AGenitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX42006
• MOLECULAR GENETICS AND METABOLISMGlutaryl-CoA dehydrogese deficiency and newborn screening2005
• JOURL OF INHERITED METABOLIC DISEASEMagement of methylmalonic acidaemia by combined liver-kidney transplantation2005
• OBSTETRICS AND GYNECOLOGYPostpartum psychosis in mild argininosuccite synthetase deficiency2005
• BIOLOGICAL CHEMISTRYIdentification of three novel mutations2005
• AMERICAN JOURL OF MEDICAL GENETICS PART AMild developmental delay in termil chromosome 6p deletion2004
• PEDIATRICSTermil 22q deletion syndrome2004
• JOURL OF INHERITED METABOLIC DISEASEHead imaging abnormalities in dihydropyrimidine dehydrogese deficiency2004
• AMERICAN JOURL OF MEDICAL GENETICS PART AMethotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion2003
• JOURL OF MEDICAL GENETICSCompensatory amplification of mtD in a patient with a novel deletion2003
• MOLECULAR GENETICS AND METABOLISMCongenital disorder of glycosylation Ic in patients of Indian origin2003
• JOURL OF PEDIATRICSClinical and molecular features of congenital disorder of glycosylation in patients with type 12002
• Adolescent medicine (Philadelphia, Pa.)The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.2002
• MOLECULAR GENETICS AND METABOLISMEarly neotal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogese2002
• MOLECULAR GENETICS AND METABOLISMFunctiol alysis of novel mutations2001
• JOURL OF INHERITED METABOLIC DISEASEClinical course and biochemistry of sialuria2001
• PEDIATRIC RESEARCHMolecular correlations in phenylketonuria1999
• AMERICAN JOURL OF MEDICAL GENETICSApparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?1999
• JOURL OF INHERITED METABOLIC DISEASEProgressive neurological deterioration1999
• AMERICAN JOURL OF MEDICAL GENETICSSevere congenital anomalies requiring transplantation in children with Kabuki syndrome1998
• AMERICAN JOURL OF MEDICAL GENETICSCongenital diaphragmatic defects and associated syndromes, malformations1998

Dr. Gregory Mark Enns M.D.'s Practice location