Publications by authors named "Charles Venditti"

66Publications

Safety questions for AAV gene therapy.

Nat Biotechnol 2020 Nov 16. Epub 2020 Nov 16.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41587-020-00756-9DOI Listing
November 2020

Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging.

Sci Adv 2019 08 14;5(8):eaaw8357. Epub 2019 Aug 14.

Division of MR Research, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1126/sciadv.aaw8357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693904PMC
August 2019

Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future.

Hum Gene Ther 2019 10 16;30(10):1236-1244. Epub 2019 Aug 16.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland.

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http://dx.doi.org/10.1089/hum.2019.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763959PMC
October 2019

Chronic kidney disease in propionic acidemia.

Genet Med 2019 12 28;21(12):2830-2835. Epub 2019 Jun 28.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-019-0593-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045176PMC
December 2019

Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism.

J Mol Med (Berl) 2019 09 3;97(9):1231-1243. Epub 2019 May 3.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Room 4A62, Bethesda, MD, 20892, USA.

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http://link.springer.com/10.1007/s00109-019-01786-w
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http://dx.doi.org/10.1007/s00109-019-01786-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715514PMC
September 2019

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.

Curr Opin Clin Nutr Metab Care 2018 Jan;21(1):42-48

Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MCO.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815322PMC
January 2018

Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models.

Hum Gene Ther 2017 04;28(4):314-322

1 Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health , Department of Health and Human Services, Bethesda, Maryland.

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http://dx.doi.org/10.1089/hum.2017.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399742PMC
April 2017

Genome editing for inborn errors of metabolism: advancing towards the clinic.

BMC Med 2017 02 27;15(1):43. Epub 2017 Feb 27.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room, 7N248A, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12916-017-0798-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327528PMC
February 2017

Gene Therapy for Metabolic Diseases.

Transl Sci Rare Dis 2016 ;1(1):73-89

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.3233/TRD-160007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108627PMC
January 2016

Methylmalonic and propionic acidemias: clinical management update.

Curr Opin Pediatr 2016 12;28(6):682-693

aDivision of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia bMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2016/12000/Methyl
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http://www.ajnr.org/content/4/4/955.full.pdf
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http://dx.doi.org/10.1097/MOP.0000000000000422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393914PMC
December 2016

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Hum Mol Genet 2017 01;26(1):52-64

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://hmg.oxfordjournals.org/content/early/2016/10/24/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075521PMC
January 2017

Response to Cunningham et al.

Genet Med 2016 Apr 10;18(4):414-5. Epub 2016 Mar 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586539PMC
April 2016

Genotoxicity in Mice Following AAV Gene Delivery: A Safety Concern for Human Gene Therapy?

Mol Ther 2016 Feb;24(2):198-201

Molecular Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

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http://dx.doi.org/10.1038/mt.2016.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817827PMC
February 2016

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Ophthalmology 2016 Mar 26;123(3):571-82. Epub 2016 Jan 26.

National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065014PMC
http://dx.doi.org/10.1016/j.ophtha.2015.10.041DOI Listing
March 2016

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.

Hum Gene Ther 2016 May 22;27(5):345-53. Epub 2016 Mar 22.

1 Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1089/hum.2015.092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841085PMC
May 2016

The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.

Mol Biosyst 2016 Feb;12(2):566-74

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli, "Federico II", Naples, Italy and CEINGE Biotecnologie Avanzate, Naples, Italy.

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http://dx.doi.org/10.1039/c5mb00736dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858437PMC
February 2016

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Genet Med 2016 Apr 13;18(4):396-404. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2015107
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http://dx.doi.org/10.1038/gim.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752912PMC
April 2016

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Genet Med 2016 Apr 13;18(4):386-95. Epub 2015 Aug 13.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2015102
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http://dx.doi.org/10.1038/gim.2015.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752925PMC
April 2016

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

J Inherit Metab Dis 2015 Sep 19;38(5):847-53. Epub 2015 May 19.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A18, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s10545-015-9816-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577977PMC
September 2015

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Am J Med Genet A 2015 Sep 10;167A(9):2075-84. Epub 2015 May 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37127DOI Listing
September 2015

Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?

J Pediatr 2015 Jun 14;166(6):1346-50. Epub 2015 Apr 14.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223476150028
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http://dx.doi.org/10.1016/j.jpeds.2015.03.026DOI Listing
June 2015

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

J Inherit Metab Dis 2015 Sep 8;38(5):839-46. Epub 2015 Jan 8.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s10545-014-9802-8
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http://dx.doi.org/10.1007/s10545-014-9802-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496322PMC
September 2015

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Pediatr Nephrol 2014 Nov 28;29(11):2139-46. Epub 2014 May 28.

Molecular Medicine, Beth Israel Deaconess Medical Center-Harvard Medical School, Boston, MA, USA,

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http://dx.doi.org/10.1007/s00467-014-2847-yDOI Listing
November 2014

Renal growth in isolated methylmalonic acidemia.

Genet Med 2013 Dec 2;15(12):990-6. Epub 2013 May 2.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2013.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149057PMC
December 2013

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

JIMD Rep 2013 29;10:33-8. Epub 2012 Dec 29.

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, 0010, USA.

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http://dx.doi.org/10.1007/8904_2012_197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755569PMC
May 2013

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).

Mol Genet Metab 2012 Nov 25;107(3):617-9. Epub 2012 Sep 25.

Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522145PMC
November 2012

Neurocognitive phenotype of isolated methylmalonic acidemia.

Pediatrics 2012 Jun 21;129(6):e1541-51. Epub 2012 May 21.

National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892-4472, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-1715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362903PMC
June 2012

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

J Inherit Metab Dis 2012 Jan 12;35(1):91-102. Epub 2011 Jul 12.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s10545-011-9364-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219318PMC
January 2012

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

J Inherit Metab Dis 2012 Jan 12;35(1):103-14. Epub 2011 Jul 12.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA.

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http://link.springer.com/10.1007/s10545-011-9365-x
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http://dx.doi.org/10.1007/s10545-011-9365-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529128PMC
January 2012

A barrel of monkeys: scAAV8 gene therapy for hemophilia in nonhuman primates.

Mol Ther 2011 May;19(5):826-7

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20893, USA.

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http://dx.doi.org/10.1038/mt.2011.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098648PMC
May 2011

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

Am J Clin Nutr 2011 Jan 3;93(1):47-56. Epub 2010 Nov 3.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA.

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https://academic.oup.com/ajcn/article/93/1/47/4597678
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http://dx.doi.org/10.3945/ajcn.110.004341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001598PMC
January 2011

Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.

Hum Gene Ther 2011 Apr 16;22(4):477-81. Epub 2011 Feb 16.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.liebertpub.com/doi/10.1089/hum.2010.164
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http://dx.doi.org/10.1089/hum.2010.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3073074PMC
April 2011

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Hum Gene Ther 2010 Sep;21(9):1147-54

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1089/hum.2010.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936498PMC
September 2010

Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia.

J Struct Biol 2010 Aug 23;171(2):125-32. Epub 2010 Apr 23.

Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.jsb.2010.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885563PMC
August 2010

Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.

Mol Ther 2010 Jan 27;18(1):11-6. Epub 2009 Oct 27.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20893, USA.

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http://dx.doi.org/10.1038/mt.2009.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839224PMC
January 2010

Mitochondrial dysfunction in mut methylmalonic acidemia.

FASEB J 2009 Apr 16;23(4):1252-61. Epub 2008 Dec 16.

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1096/fj.08-121848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660647PMC
April 2009

Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.

Hum Gene Ther 2008 Jan;19(1):53-60

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1089/hum.2007.0118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683146PMC
January 2008

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

BMC Med Genet 2007 Oct 15;8:64. Epub 2007 Oct 15.

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/1471-2350-8-64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2140053PMC
October 2007

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

BMC Med Genet 2007 Apr 30;8:24. Epub 2007 Apr 30.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/1471-2350-8-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1876207PMC
April 2007

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.

Mol Genet Metab 2006 Sep-Oct;89(1-2):64-73. Epub 2006 Jul 14.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761207PMC
October 2006

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Am J Med Genet A 2004 Jan;124A(3):274-9

Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania , USA.

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http://dx.doi.org/10.1002/ajmg.a.20430DOI Listing
January 2004

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.

Am J Med Genet A 2003 Dec;123A(3):279-84

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20293
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http://dx.doi.org/10.1002/ajmg.a.20293DOI Listing
December 2003

Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.

Pediatrics 2003 Nov;112(5):1005-15

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1542/peds.112.5.1005DOI Listing
November 2003

Omodysplasia: an affected mother and son.

Am J Med Genet 2002 Aug;111(2):169-77

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.10555DOI Listing
August 2002