Kimberly A Chapman

Kimberly A Chapman

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Kimberly A Chapman

Kimberly A Chapman

Publications by authors named "Kimberly A Chapman"

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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 04 25;126(4):397-405. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
April 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 Feb 8. Epub 2019 Feb 8.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
February 2019

Commentary.

Clin Chem 2018 11;64(11):1571

Children's National Medical Center, Washington, DC.

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http://dx.doi.org/10.1373/clinchem.2018.288159DOI Listing
November 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.

Pediatr Radiol 2018 07 23;48(7):979-991. Epub 2018 Mar 23.

Division of Radiology, Children's National Health System, 111 Michigan Ave. NW, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s00247-018-4098-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365632PMC
July 2018

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.

Mol Genet Metab Rep 2018 Jun 5;15:106-109. Epub 2018 Apr 5.

Children's National Rare Disease Institute and Children's Research Institute, Washington DC, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047110PMC
June 2018

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.

J Inherit Metab Dis 2018 03 20;41(2):157-168. Epub 2017 Nov 20.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-017-0111-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832583PMC
March 2018

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Genet Med 2017 12 25;19(12):1317-1322. Epub 2017 May 25.

Division of Laboratory Medicine, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1038/gim.2017.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702277PMC
December 2017

Response to Hartley et al. and Mullegama et al.

Genet Med 2017 12 21;19(12). Epub 2017 Sep 21.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1038/gim.2017.148DOI Listing
December 2017

Propionyl-CoA carboxylase - A review.

Mol Genet Metab 2017 12 7;122(4):145-152. Epub 2017 Oct 7.

Children's National Health System, Division of Genetics and Metabolism, United States; Rare Diseases Institute, Division of Genetics and Metabolism, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725275PMC
December 2017

Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.

Am J Physiol Endocrinol Metab 2017 10 20;313(4):E413-E428. Epub 2017 Jun 20.

Division of Endocrinology, Metabolism and Nutrition, Department of Medicine, Duke Molecular Physiology Institute, Duke University, Durham, North Carolina.

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http://www.physiology.org/doi/10.1152/ajpendo.00105.2017
Publisher Site
http://dx.doi.org/10.1152/ajpendo.00105.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668600PMC
October 2017

Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.

Curr Cardiol Rep 2017 03;19(3):24

Division of Pediatric Cardiology, Children's National Health System, 111 Michigan Ave, N.W., Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s11886-017-0834-1DOI Listing
March 2017

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.

Mol Genet Metab 2015 Aug 8;115(4):174-9. Epub 2015 May 8.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522369PMC
August 2015

Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.

Adv Neonatal Care 2015 Aug;15(4):241-7; quiz E1-2

Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1097/ANC.0000000000000206DOI Listing
August 2015

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Mol Genet Metab Rep 2015 Jun 13;3:47-54. Epub 2015 Apr 13.

Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750614PMC
June 2015

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

Am J Hum Genet 2015 Apr 26;96(4):675-81. Epub 2015 Mar 26.

Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010, USA; Departments of Integrated Systems Biology and of Pediatrics, George Washington University, Washington, DC 20052, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385183PMC
April 2015

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.

Mol Genet Metab Rep 2014 22;1:237-240. Epub 2014 May 22.

Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121296PMC
May 2014

Commentary.

Clin Chem 2013 Oct;59(10):1445

Section of Genetics and Metabolism, Children's National Medical Center, Washington, DC.

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http://dx.doi.org/10.1373/clinchem.2013.202952DOI Listing
October 2013

Development of clinical guidelines for inborn errors of metabolism: commentary.

Mol Genet Metab 2013 Apr 30;108(4):203-5. Epub 2013 Jan 30.

Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.013DOI Listing
April 2013

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

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

Methods Mol Biol 2012 ;837:231-9

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-61779-504-6_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590112PMC
April 2012

Propionic acidemia consensus conference summary.

Mol Genet Metab 2012 Jan 16;105(1):3-4. Epub 2011 Aug 16.

Children's National Medical Center, Washington, DC 20010, USA.

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http://www.oaanews.org/pdf/2011-PA-Summar.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S109671921100260
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2011.08.007DOI Listing
January 2012

Mosaic trisomy 17: variable clinical and cytogenetic presentation.

Am J Med Genet A 2011 Oct;155A(10):2489-95

Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197730PMC
October 2011

Increased C3-carnitine in a healthy premature infant.

Clin Chem 2008 Nov;54(11):1914-7; discussion 1917-8

Department of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2008.107581DOI Listing
November 2008

A false-positive newborn screening result: goat's milk acidopathy.

Pediatrics 2008 Jul;122(1):210-1; author reply 211

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http://dx.doi.org/10.1542/peds.2008-0325DOI Listing
July 2008

Repair of short oligodeoxyribonucleotides containing a stable adduct and an apurinic site by extracts of MCF-10A1 cells.

Anticancer Res 2004 Jan-Feb;24(1):117-21

Eppley Institute for Research in Cancer and Allied Diseases and Department of Biochemistry & Molecular Biology, University of Nebraska Medical Center, Omaha, Nebraska 68198-6805, USA.

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May 2004