Gregory M Enns

Gregory M Enns

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Gregory M Enns

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Perspectives on urea cycle disorder management: Results of a clinician survey.

Mol Genet Metab 2019 Jul 18. Epub 2019 Jul 18.

University of Pittsburgh, School of Medicine, Graduate School of Public Health, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2019.07.009DOI Listing
July 2019

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.

Mol Genet Metab 2019 01 10;126(1):39-42. Epub 2018 Nov 10.

Department of Genetics, Yale University School of Medicine, New Haven, CT, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361520PMC
January 2019

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

J Pediatr 2018 05 11;196:291-297.e2. Epub 2018 Jan 11.

Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924635PMC
May 2018

Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.

Mol Genet Metab 2017 12 5;122(4):156-159. Epub 2017 Oct 5.

Department of Pathology, Stanford University School of Medicine, Stanford, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.09.012DOI Listing
December 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Pediatric mitochondrial diseases and the heart.

Authors:
Gregory M Enns

Curr Opin Pediatr 2017 10;29(5):541-551

Department of Pediatrics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000535DOI Listing
October 2017

Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency.

JIMD Rep 2018 9;39:19-23. Epub 2017 Jul 9.

Division of Medical Genetics, Department of Pediatrics, Stanford University Medical Center, Palo Alto, CA, 94304, USA.

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http://dx.doi.org/10.1007/8904_2017_36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953892PMC
July 2017

Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.

J Clin Med 2017 May 3;6(5). Epub 2017 May 3.

Departments of Pediatrics and Pathology, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA 94005-5208, USA.

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http://dx.doi.org/10.3390/jcm6050050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447941PMC
May 2017

Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.

J Pediatr 2017 02 8;181:80-85.e1. Epub 2016 Nov 8.

Department of Epidemiology and Biostatistics, Division of Preventive Medicine and Public Health, University of California San Francisco School of Medicine, San Francisco, CA.

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http://dx.doi.org/10.1016/j.jpeds.2016.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538349PMC
February 2017

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

J Inherit Metab Dis 2016 11 3;39(6):821-829. Epub 2016 Aug 3.

Department of Pediatrics, Stanford University School of Medicine, 300 Pasteur Drive, H 315, Stanford, CA, 94305-5208, USA.

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http://dx.doi.org/10.1007/s10545-016-9963-8DOI Listing
November 2016

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

J Genet Couns 2016 10 14;25(5):936-44. Epub 2015 Dec 14.

Department of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1007/s10897-015-9921-xDOI Listing
October 2016

Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United States.

Pediatr Transplant 2016 Sep 8;20(6):770-3. Epub 2016 Jul 8.

Department of Surgery, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1111/petr.12746DOI Listing
September 2016

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Mol Genet Metab 2016 09 1;119(1-2):50-6. Epub 2016 Jul 1.

Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, OH, United States; Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, United States; Center for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.012DOI Listing
September 2016

Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v band of ammonia near 10.4 μm.

J Quant Spectrosc Radiat Transf 2016 May 16;175:90-99. Epub 2016 Feb 16.

High Temperature Gasdynamics Laboratory, Thermosciences division, Stanford University, 452 Escondido Mall, Bldg 520, CA 94305, USA.

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http://dx.doi.org/10.1016/j.jqsrt.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722251PMC
May 2016

Clinical Features of Lysosomal Acid Lipase Deficiency.

J Pediatr Gastroenterol Nutr 2015 Dec;61(6):619-25

*Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL †Department of Medicine, Addenbrooke's Hospital NHS Trust, Cambridge, UK ‡Medical Genetics Division, Stanford University, Stanford, CA §Department of Pediatrics, Regina Margherita Hospital, Turin, Italy ||Seattle Children's Hospital, Seattle, WA ¶Department of Vascular Medicine-Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands #New York-Presbyterian/Columbia University Medical Center, New York, NY **Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Czech Republic ††Departement de l'Enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneva, Switzerland ‡‡Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada §§Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute Genoa, Genova, Italy ||||Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK ¶¶Department of Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation, Salford, UK ##Screening Department, Institute of Mother and Child, Warsaw, Poland ***University of Minnesota, Minneapolis, MN †††Synageva BioPharma Corp, Lexington, MA ‡‡‡Hopital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1097/MPG.0000000000000935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959PMC
December 2015

Reply: To PMID 25771389.

J Pediatr 2015 Nov 9;167(5):1173-4. Epub 2015 Sep 9.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.

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http://mearsheimer.uchicago.edu/pdfs/A0022.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S002234761500894
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http://dx.doi.org/10.1016/j.jpeds.2015.08.031DOI Listing
November 2015

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

Glycobiology 2015 Aug 21;25(8):836-44. Epub 2015 Apr 21.

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA

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https://academic.oup.com/glycob/article-lookup/doi/10.1093/g
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http://dx.doi.org/10.1093/glycob/cwv024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487302PMC
August 2015

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

J Pediatr 2015 Jun 11;166(6):1455-61.e1. Epub 2015 Mar 11.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.

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http://dx.doi.org/10.1016/j.jpeds.2015.01.051DOI Listing
June 2015

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Mol Genet Metab 2015 Apr 16;114(4):557-63. Epub 2015 Feb 16.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.02.003DOI Listing
April 2015

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.

Pediatr Neurol 2015 Mar 7;52(3):361-5. Epub 2014 Nov 7.

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.023DOI Listing
March 2015

Abnormal hepatocellular mitochondria in methylmalonic acidemia.

Ultrastruct Pathol 2014 Oct 16;38(5):309-14. Epub 2014 Jun 16.

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University Medical Center , Palo Alto, CA , USA and.

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http://dx.doi.org/10.3109/01913123.2014.921657DOI Listing
October 2014

Clinical whole-exome sequencing: are we there yet?

Genet Med 2014 Sep 13;16(9):717-9. Epub 2014 Feb 13.

Division of Medical Genetics, Stanford University Medical Center, Stanford, California, USA.

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http://dx.doi.org/10.1038/gim.2014.10DOI Listing
September 2014

Treatment of mitochondrial disorders: antioxidants and beyond.

Authors:
Gregory M Enns

J Child Neurol 2014 Sep 30;29(9):1235-40. Epub 2014 Jun 30.

Department of Pediatrics, Division of Medical Genetics, Stanford University and the Lucile Packard Children's Hospital, Stanford, CA, USA

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http://dx.doi.org/10.1177/0883073814538509DOI Listing
September 2014

Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms.

J Genet Couns 2014 Aug 8;23(4):594-603. Epub 2014 Jan 8.

Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA, 94305, USA,

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http://dx.doi.org/10.1007/s10897-013-9683-2DOI Listing
August 2014

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.

Mol Genet Metab Rep 2014 1;1:129-132. Epub 2014 Apr 1.

Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121295PMC
April 2014

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.

Mitochondrion 2013 Nov 21;13(6):681-7. Epub 2013 Sep 21.

Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.09.003DOI Listing
November 2013

A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.

J Chromatogr B Analyt Technol Biomed Life Sci 2013 Jun 12;929:51-5. Epub 2013 Apr 12.

Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, United States.

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http://dx.doi.org/10.1016/j.jchromb.2013.04.004DOI Listing
June 2013

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Pediatr Transplant 2013 Mar 24;17(2):158-67. Epub 2013 Jan 24.

Division of Abdominal Transplantation, Department of Surgery, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1111/petr.12041DOI Listing
March 2013

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.

Mol Genet Metab 2012 Dec 28;107(4):690-9. Epub 2012 Sep 28.

Department of Radiology, Divisions of Pediatric Radiology & Nuclear Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.023DOI Listing
December 2012

Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?

Am J Med Genet A 2012 Sep 7;158A(9):2353-7. Epub 2012 Aug 7.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.35533DOI Listing
September 2012

Propionic acidemia: to liver transplant or not to liver transplant?

Pediatr Transplant 2012 May 15;16(3):209-10. Epub 2012 Feb 15.

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http://dx.doi.org/10.1111/j.1399-3046.2012.01649.xDOI Listing
May 2012

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.

Mitochondrion 2012 Mar 29;12(2):258-61. Epub 2011 Sep 29.

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1016/j.mito.2011.09.006DOI Listing
March 2012

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

Mol Genet Metab 2012 Jan 21;105(1):91-102. Epub 2011 Oct 21.

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.10.009DOI Listing
January 2012

High-quality DNA sequence capture of 524 disease candidate genes.

Proc Natl Acad Sci U S A 2011 Apr 5;108(16):6549-54. Epub 2011 Apr 5.

Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA.

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http://dx.doi.org/10.1073/pnas.1018981108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080966PMC
April 2011

Nitrogen sparing therapy revisited 2009.

Authors:
Gregory M Enns

Mol Genet Metab 2010 13;100 Suppl 1:S65-71. Epub 2010 Feb 13.

Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305-5208, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192100005
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http://dx.doi.org/10.1016/j.ymgme.2010.02.007DOI Listing
July 2010

Future treatment strategies in phenylketonuria.

Mol Genet Metab 2010 ;99 Suppl 1:S90-5

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.008DOI Listing
June 2010

Long-term outcome following pediatric liver transplantation for metabolic disorders.

Pediatr Transplant 2010 Mar 11;14(2):268-75. Epub 2009 Aug 11.

Department of Surgery, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1111/j.1399-3046.2009.01228.xDOI Listing
March 2010

Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.

J Pediatr Gastroenterol Nutr 2009 Jul;49(1):130-2

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305-5208, USA.

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https://insights.ovid.com/crossref?an=00005176-200907000-000
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http://dx.doi.org/10.1097/MPG.0b013e31819de7a6DOI Listing
July 2009

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

J Pediatr Hematol Oncol 2009 Jul;31(7):527-9

Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.

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http://dx.doi.org/10.1097/MPH.0b013e3181a974c8DOI Listing
July 2009

Mapping gene associations in human mitochondria using clinical disease phenotypes.

PLoS Comput Biol 2009 Apr 24;5(4):e1000374. Epub 2009 Apr 24.

Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA.

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http://dx.doi.org/10.1371/journal.pcbi.1000374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668170PMC
April 2009

Cell-based therapies for metabolic liver disease.

Mol Genet Metab 2008 Sep-Oct;95(1-2):3-10. Epub 2008 Jul 18.

Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, 94305-5208, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.06.001DOI Listing
November 2008

Neurologic damage and neurocognitive dysfunction in urea cycle disorders.

Authors:
Gregory M Enns

Semin Pediatr Neurol 2008 Sep;15(3):132-9

Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.spen.2008.05.007DOI Listing
September 2008

Central nervous system therapy for lysosomal storage disorders.

Neurosurg Focus 2008 ;24(3-4):E12

Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, USA.

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http://dx.doi.org/10.3171/FOC/2008/24/3-4/E11DOI Listing
April 2008

Dopa-responsive dystonia presenting as delayed and awkward gait.

Pediatr Neurol 2008 Apr;38(4):273-5

Department of Psychiatry, Center for Neurobiology and Psychiatry, University of California at San Francisco, San Francisco, California 94158-2324, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.005DOI Listing
April 2008

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Am J Med Genet A 2008 Feb;146A(3):361-7

Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31841
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http://dx.doi.org/10.1002/ajmg.a.31841DOI Listing
February 2008

Glutaric acidemia type I: a neurosurgical perspective. Report of two cases.

J Neurosurg 2007 Aug;107(2 Suppl):167-72

Department of Neurosurgery, Stanford University School of Medicine, California 94305-5327, USA.

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http://dx.doi.org/10.3171/PED-07/08/167DOI Listing
August 2007

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

N Engl J Med 2007 May;356(22):2282-92

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1056/NEJMoa066596DOI Listing
May 2007

Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).

Pediatrics 2006 Nov 16;118(5):e1485-92. Epub 2006 Oct 16.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1542/peds.2006-0824DOI Listing
November 2006

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

Mol Genet Metab 2006 Aug 20;88(4):364-71. Epub 2006 Mar 20.

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive H-315, Stanford, CA 94305-5208, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600038
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http://dx.doi.org/10.1016/j.ymgme.2006.02.001DOI Listing
August 2006

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Am J Med Genet A 2006 Jul;140(14):1567-72

Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.

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http://dx.doi.org/10.1002/ajmg.a.31258DOI Listing
July 2006

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Mol Genet Metab 2005 Nov 23;86(3):417-20. Epub 2005 Sep 23.

Department of Pediatrics, Division of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.08.005DOI Listing
November 2005

Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.

Obstet Gynecol 2005 May;105(5 Pt 2):1244-6

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1097/01.AOG.0000157769.90230.24DOI Listing
May 2005

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.

Biol Chem 2005 Apr;386(4):319-24

Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, P.O. Box 22700, NL-1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1515/BC.2005.038DOI Listing
April 2005

The contribution of mitochondria to common disorders.

Authors:
Gregory M Enns

Mol Genet Metab 2003 Sep-Oct;80(1-2):11-26

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA 94305-5208, USA.

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November 2004

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Pediatrics 2004 Aug;114(2):451-7

Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1542/peds.114.2.451DOI Listing
August 2004

Mild developmental delay in terminal chromosome 6p deletion.

Am J Med Genet A 2004 Aug;129A(2):201-5

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.30127DOI Listing
August 2004

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.

Am J Med Genet A 2003 Nov;123A(1):72-8

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.20503DOI Listing
November 2003

The adolescent with an inborn error of metabolism: medical issues and transition to adulthood.

Adolesc Med 2002 Jun;13(2):315-29, vii

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305-5208, USA.

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June 2002