Publications by authors named "Jennifer L Sloan"

28Publications

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

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

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

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

PLoS Genet 2014 Oct 16;10(10):e1004575. Epub 2014 Oct 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199479PMC
October 2014

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

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

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

J Med Genet 2010 Aug 7;47(8):525-32. Epub 2010 Jun 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1136/jmg.2009.073965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412429PMC
August 2010

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Invest Ophthalmol Vis Sci 2009 Nov 10;50(11):5035-43. Epub 2009 Jun 10.

Penn State University College of Medicine, Hershey, Pennsylvania, USA.

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http://dx.doi.org/10.1167/iovs.09-3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883270PMC
November 2009

Expression of the amino acid transporter ATB 0+ in lung: possible role in luminal protein removal.

Am J Physiol Lung Cell Mol Physiol 2003 Jan 23;284(1):L39-49. Epub 2002 Aug 23.

Department of Cell and Molecular Physiology and the Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1152/ajplung.00164.2002DOI Listing
January 2003