Publications by authors named "Karlla W Brigatti"

21Publications

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

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

Effects of genetic severity on glucose homeostasis in Friedreich ataxia.

Muscle Nerve 2016 11 30;54(5):887-894. Epub 2016 Aug 30.

Division of Neurology, The Children's Hospital of Philadelphia, 502 Abramson Research Center, Philadelphia, 3615 Civic Center Boulevard, Pennsylvania, 19104-4318, USA.

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http://dx.doi.org/10.1002/mus.25136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257251PMC
November 2016

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/acn3.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554444PMC
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:

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

Novel diagnostic paradigms for Friedreich ataxia.

J Child Neurol 2012 Sep 29;27(9):1146-51. Epub 2012 Jun 29.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://journals.sagepub.com/doi/10.1177/0883073812448440
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http://dx.doi.org/10.1177/0883073812448440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674546PMC
September 2012

A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial.

Mov Disord 2012 Jul 28;27(8):1026-33. Epub 2012 Jun 28.

Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1002/mds.25058DOI Listing
July 2012

Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications.

Am J Obstet Gynecol 2010 Sep 15;203(3):224.e1-5. Epub 2010 May 15.

Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ajog.2010.03.046DOI Listing
September 2010

First-trimester screening for aneuploidy.

Obstet Gynecol Clin North Am 2004 Mar;31(1):v, 1-20

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, Columbia Presbyterian Medical Center, 622 West 168th Street, PH16, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/S0889-8545(03)00119-0DOI Listing
March 2004