Gregory Enns

Geneticist

Professional Education

Board Certification: Medical Biochemical Genetics, American Board of Medical Genetics (1999)

Residency: Children's Hospital Los Angeles (1995) CA

Board Certification: Pediatrics, American Board of Pediatrics (1994)

Medical Education: University of St Andrews (1990) Scotland

Board Certification: Clinical Genetics, American Board of Medical Genetics (1999)

Fellowship: UCSF Medical Center (1998) CA

Internship: Children's Hospital Los Angeles (1992) CA

MB, ChB, University of Glasgow, Medicine (1990)

Diploma, Medical Science, University of St. Andrews, Medicine (1987)

BA, Pomona College, Biology (1984)

Clinical Trials

Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Hospital & Clinics patient, you have access to the latest, advanced clinical trials.

Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.

A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood
Moore, T., Le, A., Niemi, A.-K., Kwan, T., Cusmano-Ozog, K., & Cowan, T. M. (2013). A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, 929, 51-55.

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
Blankenberg, F. G., Kinsman, S. L., Cohen, B. H., Goris, M. L., Spicer, K. M., & Enns, G. M. (2012). Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. MOLECULAR GENETICS AND METABOLISM, 107(4), 690-699.

Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine
Cox, R., Platt, J., Chen, L. C., Tang, S., Wong, L.-J., & Enns, G. M. (2012). Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine. MITOCHONDRION, 12(2), 258-261.

Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., & Miller, G. (2012). Initial experience in the treatment of inherited mitochondrial disease with EPI-743. MOLECULAR GENETICS AND METABOLISM, 105(1), 91-102.

High-quality DNA sequence capture of 524 disease candidate genes
Shen, P., Wang, W., Krishnakumar, S., Palm, C., Chi, A.-K., & Scharfe, C. (2011). High-quality DNA sequence capture of 524 disease candidate genes. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 108(16), 6549-6554.

Novel Deoxyguanosine Kinase Gene Mutations and Viral Infection Predispose Apparently Healthy Children to Fulminant Liver Failure
Shieh, J. Tc., Berquist, W. E., Zhang, Q., Chou, P.-C., Wong, L.-J. C., & Enns, G. M. (2009). Novel Deoxyguanosine Kinase Gene Mutations and Viral Infection Predispose Apparently Healthy Children to Fulminant Liver Failure. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 49(1), 130-132.

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes
Scharfe, C., Lu, H. H.-S., Neuenburg, J. K., Allen, E. A., Li, G.-C., & Davis, R. W. (2009). Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLOS COMPUTATIONAL BIOLOGY, 5(4).

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia
Atkuri, K. R., Cowan, T. M., Kwan, T., Ng, A., Herzenberg, L. A., & Enns, G. M. (2009). Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 106(10), 3941-3945.

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Enns, G. M., Berry, S. A., Berry, G. T., Rhead, W. J., Brusilow, S. W., & Hamosh, A. (2007). Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. NEW ENGLAND JOURNAL OF MEDICINE, 356(22), 2282-2292.

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Enns, G. M., Bai, R.-K., Beck, A. E., & Wong, L.-J. (2006). Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. MOLECULAR GENETICS AND METABOLISM, 88(4), 364-371.

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle
Enns, G. M., Hoppel, C. L., DeArmond, S. J., Schelley, S., Bass, N., & Packman, S. (2005). Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. CLINICAL GENETICS, 68(4), 337-348.

The contribution of mitochondria to common disorders
Enns, G. M. (2003). The contribution of mitochondria to common disorders. MOLECULAR GENETICS AND METABOLISM, 80(1-2), 11-26.

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Enns, G. M., Bennett, M. J., Hoppel, C. L., Goodman, S. I., Weisiger, K., & Packman, S. (2000). Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. JOURNAL OF PEDIATRICS, 136(2), 251-254.

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.
Kim, I. K., Niemi, A.-K., Krueger, C., Bonham, C. A., Concepcion, W., & Esquivel, C. O. (2013). Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience. Pediatric transplantation, 17(2), 158-167.

Atypical Amyoplasia Congenita in an Infant With Leigh Syndrome: A Mitochondrial Cause of Severe Contractures?
Wilnai, Y., Seaver, L. H., & Enns, G. M. (2012). Atypical Amyoplasia Congenita in an Infant With Leigh Syndrome: A Mitochondrial Cause of Severe Contractures?. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(9), 2353-2357.

Propionic acidemia: To liver transplant or not to liver transplant?
Chapman, K. A., Summar, M. L., & Enns, G. M. (2012). Propionic acidemia: To liver transplant or not to liver transplant?. PEDIATRIC TRANSPLANTATION, 16(3), 209-210.

Natural history of propionic acidemia
Pena, L., Franks, J., Chapman, K. A., Gropman, A., Mew, N. A., & Summar, M. L. (2012). Natural history of propionic acidemia. MOLECULAR GENETICS AND METABOLISM, 105(1), 5-9.

Length of prenatal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants: effects on neonatal adaptation and psychomotor development
Casper, R. C., Gilles, A. A., Fleisher, B. E., Baran, J., Enns, G., & Lazzeroni, L. C. (2011). Length of prenatal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants: effects on neonatal adaptation and psychomotor development. PSYCHOPHARMACOLOGY, 217(2), 211-219.

alpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging
Shrader, W. D., Amagata, A., Barnes, A., Enns, G. M., Hinman, A., & Miller, G. (2011). alpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 21(12), 3693-3698.

Long-term follow-up of a patient with early onset CBLG disease
Niemi, A. K., Cusmano-Ozog, K., Rosenblatt, D. S., & Enns, G. M. (2011). Long-term follow-up of a patient with early onset CBLG disease. MOLECULAR GENETICS AND METABOLISM, 102(3), 306-307.

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. (2010). Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence. MOLECULAR GENETICS AND METABOLISM, 101(2-3), 99-109.

Long-term outcome following pediatric liver transplantation for metabolic disorders
Stevenson, T., Millan, M. T., Wayman, K., Berquist, W. E., Sarwal, M., & Enns, G. M. (2010). Long-term outcome following pediatric liver transplantation for metabolic disorders. PEDIATRIC TRANSPLANTATION, 14(2), 268-275.

Nitrogen sparing therapy revisited 2009
Enns, G. M. (2010). Nitrogen sparing therapy revisited 2009. MOLECULAR GENETICS AND METABOLISM, 100, S65-S71.

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. (2009). Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. BONE MARROW TRANSPLANTATION, 44(7), 449-450.

Hypoplastic Glomerulocystic Kidney Disease and Hepatoblastoma A Potential Association not Caused by Mutations in Hepatocyte Nuclear Factor 1 beta
Abdul-Rahman, O. A., Edghill, E. L., Kwan, A., Enns, G. M., & Hattersley, A. T. (2009). Hypoplastic Glomerulocystic Kidney Disease and Hepatoblastoma A Potential Association not Caused by Mutations in Hepatocyte Nuclear Factor 1 beta. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 31(7), 527-529.

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy
Mobley, B. C., Enns, G. M., Wong, L.-J., & Vogel, H. (2009). A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. CLINICAL NEUROPATHOLOGY, 28(2), 143-149.

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. (2009). Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy. JOURNAL OF PERINATOLOGY, 29(2), 166-167.

Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders
Enns, G. M. (2008). Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders. SEMINARS IN PEDIATRIC NEUROLOGY, 15(3), 132-139.

Cell-based therapies for metabolic liver disease
Enns, G. M., & Millan, M. T. (2008). Cell-based therapies for metabolic liver disease. MOLECULAR GENETICS AND METABOLISM, 95(1-2), 3-10.

Central nervous system therapy for lysosomal storage disorders
Enns, G. M., & Huhn, S. L. (2008). Central nervous system therapy for lysosomal storage disorders. NEUROSURGICAL FOCUS, 24(3-4).

Glutaric acidemia type I: a neurosurgical perspective
Hou, L. C., Veeravagu, A., Hsu, A. R., Enns, G. M., & Huhn, S. L. (2007). Glutaric acidemia type I: a neurosurgical perspective. JOURNAL OF NEUROSURGERY, 107(2), 167-172.

Systemic hyalinosis: A distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
Shieh, J. Tc., Swidler, P., Martignetti, J. A., Ramirez, M. C. M., Balboni, I., & Hoyme, H. E. (2006). Systemic hyalinosis: A distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). PEDIATRICS, 118(5), E1485-E1492.

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4
Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., & Hudgins, L. (2006). Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(14), 1567-1572.

Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed
Gallagher, R. C., Cowan, T. M., Goodman, S. I., & Enns, G. A. (2005). Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed. MOLECULAR GENETICS AND METABOLISM, 86(3), 417-420.

Management of methylmalonic acidaemia by combined liver-kidney transplantation
Nagarajan, S., Enns, G. M., Millan, M. T., Winter, S., & Sarwal, M. M. (2005). Management of methylmalonic acidaemia by combined liver-kidney transplantation. JOURNAL OF INHERITED METABOLIC DISEASE, 28(4), 517-524.

Postpartum "psychosis" in mild argininosuccinate synthetase deficiency
Enns, G. M., O'Brien, W. E., Kobayashi, K., Shinzawa, H., & Pellegrino, J. E. (2005). Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. OBSTETRICS AND GYNECOLOGY, 105(5), 1244-1246.

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function
van Kuilenburg, A. Bp., Meinsma, R., Beke, E., Bobba, B., Boffi, P., & Dobritzsch, D. (2005). Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function. BIOLOGICAL CHEMISTRY, 386(4), 319-324.

Mild developmental delay in terminal chromosome 6p deletion
Chen, K. M., Cherry, A. M., Hahn, J. S., & Enns, G. M. (2004). Mild developmental delay in terminal chromosome 6p deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 129A(2), 201-205.

Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
Manning, M. A., Cassidy, S. B., Clericuzio, C., Cherry, A. M., Schwartz, S., & Hoyme, H. E. (2004). Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. PEDIATRICS, 114(2), 451-457.

Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency
Enns, G. M., Barkovich, A. J., van Kuilenburg, A. Bp., Manning, M., Sanger, T., & Van Gennip, A. H. (2004). Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. JOURNAL OF INHERITED METABOLIC DISEASE, 27(4), 513-522.

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion
Adam, M. P., Manning, M. A., Beck, A. E., Kwan, A., Enns, G. M., & Hoyme, H. E. (2003). Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 123A(1), 72-78.

Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
Wong, L. Jc., Perng, C. L., Hsu, C. H., Bai, R. K., Schelley, S., & Enns, G. M. (2003). Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load. JOURNAL OF MEDICAL GENETICS, 40(11).

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. (2003). Congenital disorder of glycosylation Ic in patients of Indian origin. MOLECULAR GENETICS AND METABOLISM, 79(3), 221-228.

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
Enns, G. M., Steiner, R. D., Buist, N., Cowan, C., Leppig, K. A., & Hudgins, L. (2002). Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. JOURNAL OF PEDIATRICS, 141(5), 695-700.

The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.
Enns, G. M., & Packman, W. (2002). The adolescent with an inborn error of metabolism: medical issues and transition to adulthood. Adolescent medicine (Philadelphia, Pa.), 13(2), 315-?.

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies
Hintz, S. R., Matern, D., Strauss, A., Bennett, M. J., Hoyme, H. E., & Enns, G. M. (2002). Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies. MOLECULAR GENETICS AND METABOLISM, 75(2), 120-127.

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry
Westphal, V., Enns, G. M., McCracken, M. F., & Freeze, H. H. (2001). Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. MOLECULAR GENETICS AND METABOLISM, 73(1), 71-76.

Clinical course and biochemistry of sialuria
Enns, G. M., Seppala, R., Musci, T. J., Weisiger, K., Ferrell, L. D., & Packman, S. (2001). Clinical course and biochemistry of sialuria. JOURNAL OF INHERITED METABOLIC DISEASE, 24(3), 328-336.

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., & Packman, S. (1999). Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. PEDIATRIC RESEARCH, 46(5), 594-602.

Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?
Enns, G. M., Roeder, E., Chan, R. T., Catts, Z. Ak., Cox, V. A., & Golabi, M. (1999). Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?. AMERICAN JOURNAL OF MEDICAL GENETICS, 86(3), 237-241.

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., & Packman, S. (1999). Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. JOURNAL OF INHERITED METABOLIC DISEASE, 22(5), 599-607.

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome
Ewart-Toland, A., Enns, G. M., Cox, V. A., Mohan, G. C., Rosenthal, P., & Golabi, M. (1998). Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS, 80(4), 362-367.

Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review
Enns, G. M., Cox, V. A., Goldstein, R. B., Gibbs, D. L., Harrison, M. R., & Golabi, M. (1998). Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. AMERICAN JOURNAL OF MEDICAL GENETICS, 79(3), 215-225.