Kevin A Strauss

Kevin A Strauss

UNVERIFIED PROFILE

Are you Kevin A Strauss?   Register this Author

Register author
Kevin A Strauss

Kevin A Strauss

Publications by authors named "Kevin A Strauss"

Are you Kevin A Strauss?   Register this Author

72Publications

1899Reads

9Profile Views

Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.

J Gastroenterol Hepatol 2019 Sep 8. Epub 2019 Sep 8.

Audentes Therapeutics, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jgh.14853DOI Listing
September 2019

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

Hepatology 2019 Sep 25. Epub 2019 Sep 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.30959DOI Listing
September 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:

View Article

Download full-text PDF

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

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.

J Allergy Clin Immunol 2017 Oct 23;140(4):1120-1129.e1. Epub 2017 Jan 23.

Section of Immunology, Allergy and Rheumatology, Texas Children's Hospital, Baylor College of Medicine, Houston, Tex. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.11.051DOI Listing
October 2017

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.

J Clin Endocrinol Metab 2015 Aug 16;100(8):E1105-15. Epub 2015 Jun 16.

Clinic for Special Children (A.R.B., M.Y., D.R., C.H., K.A.S.), Strasburg, Pennsylvania 17579; Department of Pediatric Endocrinology (P.A.L.), Pennsylvania State University Milton S. Hershey Medical Center, Hershey, Pennsylvania 17033; Franklin and Marshall College (K.A.S.), Lancaster, Pennsylvania 17603; and Lancaster General Hospital (K.A.S.), Lancaster, Pennsylvania 17602.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2015-2098DOI Listing
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.

Hum Mol Genet 2015 May 4;24(10):2796-807. Epub 2015 Feb 4.

Division of Glycopathology, Institute of Molecular Biomembranes and Glycobiology, Tohoku Pharmaceutical University, 4-4-1 Aoba-ku, Sendai, Miyagi 981-8558, Japan,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425844PMC
May 2015

Living related transplantation for MSUD--caution, or a new path forward?

Pediatr Transplant 2015 May;19(3):247-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/petr.12423DOI Listing
May 2015

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.

J Clin Invest 2013 Apr 8;123(4):1809-20. Epub 2013 Mar 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI67217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613932PMC
April 2013

Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.

Sci Transl Med 2013 Apr;5(182):182ra53

Penn Epilepsy Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/scitranslmed.3005271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720125PMC
April 2013

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.

View Article

Download full-text PDF

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

Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.

Cardiol Young 2011 Apr 12;21(2):145-52. Epub 2010 Nov 12.

Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951110001587DOI Listing
April 2011

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.

Brain 2010 Jan 23;133(Pt 1):76-92. Epub 2009 Dec 23.

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

View Article

Download full-text PDF

Source
https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awp297DOI Listing
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.

View Article

Download full-text PDF

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

Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.

Clin Immunol 2009 Apr 16;131(1):119-28. Epub 2009 Jan 16.

Penn State Hershey Medical Center, Division of Allergy and Immunology, Hershey, PA 17033, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2008.11.001DOI Listing
April 2009

Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.

FASEB J 2008 Dec 15;22(12):4071-6. Epub 2008 Aug 15.

Department of Microbiology & Molecular Genetics, UMDNJ-New Jersey Medical School, International Center for Public Health, 225 Warren St., Newark, NJ 07101-1709, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.08-112086DOI Listing
December 2008

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.

Brain 2007 Jul 3;130(Pt 7):1905-20. Epub 2007 May 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awm058DOI Listing
July 2007

Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.

FASEB J 2007 Jun 27;21(8):1707-13. Epub 2007 Feb 27.

Department of Microbiology and Molecular Genetics, UMDNJ-New Jersey Medical School, International Center for Public Health, 225 Warren St., Newark, NJ 07101-1709, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.06-7435comDOI Listing
June 2007

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.

View Article

Download full-text PDF

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

Glutaric aciduria type 1: a clinician's view of progress.

Authors:
Kevin A Strauss

Brain 2005 Apr;128(Pt 4):697-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awh482DOI Listing
April 2005

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Type I glutaric aciduria, part 2: a model of acute striatal necrosis.

Am J Med Genet C Semin Med Genet 2003 Aug;121C(1):53-70

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.20008DOI Listing
August 2003

Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.

Curr Treat Options Neurol 2003 Jul;5(4):329-341

Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17570, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11940-003-0039-3DOI Listing
July 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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