Associate Professor, Pediatrics - Medical Genetics, Stanford University Medical Center

Medical Genetics

Dr. Gregory M. Enns, MD

Gregory Enns is an expert in the field of Medical Genetics. He received awards:"Regional Top Doctor" and "Fellow (FAAP)". Gregory Enns is also published. He has 50 publications published. The lastest publication: "Long-term safety and efficacy of sapropterin: The PKUDOS registry experience.'

Publications

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism.
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia.
Treatment of Mitochondrial Disorders: Antioxidants and Beyond.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Clinical interpretation and implications of whole-genome sequencing.
Clinical whole-exome sequencing: are we there yet?
Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges.
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.
Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience.
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.
Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
Natural history of propionic acidemia.
High-quality DNA sequence capture of 524 disease candidate genes.
A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability.
Future treatment strategies in phenylketonuria.
Nitrogen sparing therapy revisited 2009.
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.
Mapping gene associations in human mitochondria using clinical disease phenotypes.
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.
Neurologic damage and neurocognitive dysfunction in urea cycle disorders.
Cell-based therapies for metabolic liver disease.
Dopa-responsive dystonia presenting as delayed and awkward gait.
Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
Central nervous system therapy for lysosomal storage disorders.
Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.
Mild developmental delay in terminal chromosome 6p deletion.
Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
The contribution of mitochondria to common disorders.
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.
The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Awards

Regional Top Doctor
Fellow (FAAP)

Education

UCSF
Children's Hospital of Los Angeles
University of Glasgow Faculty of Medicine

Hospital

UCSF Medical Center
Stanford Health Care
Lucile Packard Children's Hospital Stanford

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