Publications by authors named "Erik G Puffenberger"

57Publications

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

Mol Genet Metab 2020 Oct 4. Epub 2020 Oct 4.

Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA; Central Pennsylvania Clinic, Belleville, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2020.09.007DOI Listing
October 2020

Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.

Hepatology 2020 Jun 5;71(6):1923-1939. Epub 2020 Feb 5.

Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.

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http://dx.doi.org/10.1002/hep.30959DOI Listing
June 2020

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

J Mol Diagn 2019 07 25;21(4):687-694. Epub 2019 Apr 25.

Clinical Laboratory, Clinic for Special Children, Strasburg, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338886PMC
July 2019

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Living related versus deceased donor liver transplantation for maple syrup urine disease.

Mol Genet Metab 2016 Mar 12;117(3):336-43. Epub 2016 Jan 12.

Clinic for Special Children, Strasburg, PA, USA; Franklin & Marshall College, Lancaster, PA, USA; Lancaster General Hospital, Lancaster, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.005DOI Listing
March 2016

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

Mol Genet Metab 2015 Sep-Oct;116(1-2):44-52. Epub 2015 Jun 19.

Hillman Center for Pediatric Transplantation, Thomas E. Starzl Transplant Institute and Center for Rare Disease Therapy, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2015.06.005DOI Listing
July 2016

One community's effort to control genetic disease.

Am J Public Health 2012 Jul 17;102(7):1300-6. Epub 2012 May 17.

Clinic for Special Children, Strasburg, PA17579, USA.

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http://dx.doi.org/10.2105/AJPH.2011.300569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477994PMC
July 2012

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Proc Natl Acad Sci U S A 2010 Jan 14;107(1):258-63. Epub 2009 Dec 14.

DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.

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http://dx.doi.org/10.1073/pnas.0908457107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806776PMC
January 2010

Genetics, medicine, and the Plain people.

Annu Rev Genomics Hum Genet 2009 ;10:513-36

Clinic for Special Children, Strasburg, Pennsylvania 17579, USA.

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http://dx.doi.org/10.1146/annurev-genom-082908-150040DOI Listing
October 2009

Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.

Eur J Pediatr 2006 May 25;165(5):306-19. Epub 2006 Jan 25.

Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA.

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http://link.springer.com/10.1007/s00431-005-0055-2
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http://dx.doi.org/10.1007/s00431-005-0055-2DOI Listing
May 2006

Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

BMC Genomics 2005 Sep 30;6:138. Epub 2005 Sep 30.

Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona 85004, USA.

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http://dx.doi.org/10.1186/1471-2164-6-138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1262713PMC
September 2005

Type I glutaric aciduria, part 1: natural history of 77 patients.

Am J Med Genet C Semin Med Genet 2003 Aug;121C(1):38-52

Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA.

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http://doi.wiley.com/10.1002/ajmg.c.20007
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http://dx.doi.org/10.1002/ajmg.c.20007DOI Listing
August 2003

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Am J Med Genet C Semin Med Genet 2003 Aug;121C(1):5-17

Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA.

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http://dx.doi.org/10.1002/ajmg.c.20002DOI Listing
August 2003

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Nat Genet 2003 May;34(1):91-6

Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California San Francisco, California 94110, USA.

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http://dx.doi.org/10.1038/ng1147DOI Listing
May 2003

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Am J Med Genet 2002 Nov;112(4):318-26

Division of Metabolism, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1002/ajmg.10529DOI Listing
November 2002

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.

Nat Genet 2002 Oct 23;32(2):237-44. Epub 2002 Sep 23.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe St., Jefferson St. Bldg., 2-109, Baltimore, Maryland 21287, USA.

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http://www.nature.com/articles/ng998
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http://dx.doi.org/10.1038/ng998DOI Listing
October 2002

Diagnosis and treatment of maple syrup disease: a study of 36 patients.

Pediatrics 2002 Jun;109(6):999-1008

Clinic for Special Children, Strasburg Pennsylvania 17579,, USA.

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http://dx.doi.org/10.1542/peds.109.6.999DOI Listing
June 2002