Raphaela Goldbach-Mansky

Raphaela Goldbach-Mansky

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Raphaela Goldbach-Mansky

Raphaela Goldbach-Mansky

Publications by authors named "Raphaela Goldbach-Mansky"

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Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib.

Brain 2019 Oct 11. Epub 2019 Oct 11.

Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/brain/awz293DOI Listing
October 2019

Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey.

Clin Immunol 2019 Oct 15:108273. Epub 2019 Oct 15.

Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey; Department of Pediatric Allergy and Immunology, Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey.

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http://dx.doi.org/10.1016/j.clim.2019.108273DOI Listing
October 2019

Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.

J Allergy Clin Immunol 2019 May 18;143(5):1939-1943.e8. Epub 2019 Jan 18.

Charité-Universitätsmedizin Berlin CCO Institut für Biochemie, Berlin, Germany; Universitätsmedizin Greifswald Institute of Medical Biochemistry and Molekular Biology, Klinikum DZ7, Greifswald, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193003
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http://dx.doi.org/10.1016/j.jaci.2018.12.1012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565382PMC
May 2019

Recurrent fevers, progressive lipodystrophy, and annular plaques in a child.

J Am Acad Dermatol 2019 Jan 8;80(1):291-295. Epub 2018 Sep 8.

Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183249
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http://dx.doi.org/10.1016/j.jaad.2018.08.043DOI Listing
January 2019

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019

Updates on autoinflammatory diseases.

Curr Opin Immunol 2018 12 16;55:97-105. Epub 2018 Nov 16.

Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09527915183010
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http://dx.doi.org/10.1016/j.coi.2018.09.014DOI Listing
December 2018

Rash, Fever, and Pulmonary Hypertension in a 6-Year-Old Female.

Arthritis Care Res (Hoboken) 2018 05 2;70(5):785-790. Epub 2018 Apr 2.

CHOC Children's Hospital, Orange, California.

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http://dx.doi.org/10.1002/acr.23506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920705PMC
May 2018

Introduction: Autoinflammatory Syndromes Special Issue-hidden mysteries in the corners of autoinflammation.

Int Immunol 2018 04;30(5):181-182

Translational Autoinflammatory Disease Studies, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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https://academic.oup.com/intimm/article/30/5/181/4985551
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http://dx.doi.org/10.1093/intimm/dxy022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281335PMC
April 2018

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

Reply.

J Allergy Clin Immunol 2017 07 29;140(1):316-317. Epub 2017 Apr 29.

Children's Hospital of Philadelphia, Philadelphia, Pa.

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http://dx.doi.org/10.1016/j.jaci.2017.03.016DOI Listing
July 2017

Familial chilblain lupus due to a gain-of-function mutation in STING.

Ann Rheum Dis 2017 Feb 26;76(2):468-472. Epub 2016 Aug 26.

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1136/annrheumdis-2016-209841DOI Listing
February 2017

Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.

Dermatol Clin 2017 Jan;35(1):21-38

Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Building 10, Room 6D-47B, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.det.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5147585PMC
January 2017

TCF11/Nrf1-Mediated Induction of Proteasome Expression Prevents Cytotoxicity by Rotenone.

Antioxid Redox Signal 2016 12 14;25(16):870-885. Epub 2016 Nov 14.

1 Charité-Universitätsmedizin Berlin, Institut für Biochemie , Berlin, Germany .

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http://dx.doi.org/10.1089/ars.2015.6539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445217PMC
December 2016

Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.

J Mol Med (Berl) 2016 10 27;94(10):1111-1127. Epub 2016 Sep 27.

Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), and NIAMS, National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s00109-016-1465-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094849PMC
October 2016

Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

J Am Acad Dermatol 2016 Jan 14;74(1):186-9. Epub 2015 Nov 14.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691417PMC
January 2016

Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.

Annu Rev Immunol 2015 20;33:823-74. Epub 2015 Feb 20.

Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, Maryland 20892; email:

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http://www.annualreviews.org/doi/10.1146/annurev-immunol-032
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http://dx.doi.org/10.1146/annurev-immunol-032414-112227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563985PMC
December 2015

Newly recognized Mendelian disorders with rheumatic manifestations.

Curr Opin Rheumatol 2015 Sep;27(5):511-9

Translational Autoinflammatory Diseases Section, National Institute of Arthritis, Musculoskeletal and Skin diseases (NIAMS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/BOR.0000000000000207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565793PMC
September 2015

New monogenic autoinflammatory diseases--a clinical overview.

Semin Immunopathol 2015 Jul 12;37(4):387-94. Epub 2015 May 12.

Autoinflammatory Pathogenesis Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bldg. 10, room 13c103, 10 Center Dr., Bethesda, MD, 20892, USA,

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http://dx.doi.org/10.1007/s00281-015-0493-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556430PMC
July 2015

Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.

Am J Dermatopathol 2015 Jul;37(7):517-22

*Department of Dermatology, Hospital del Niño Jesús, Madrid, Spain; †Paediatric Histopathology Department, Birmingham Children's Hospital, Birmingham, United Kingdom; ‡Department of Dermatology, Fundación Jiménez Díaz, Madrid, Spain; §Department of Dermatology, Northwestern University, Chicago, IL; ¶Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; ‖Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD; **Department of Dermatology, Hospital Carlos Haya, Málaga, Spain; ††Translational Autoinflammatory Disease Section, NIAMS, NIH, Bethesda, MD; and ‡‡Dermatohistopathologisches Gemeinschaftslabor, Friedrichshafen, Germany.

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http://dx.doi.org/10.1097/DAD.0000000000000340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476069PMC
July 2015

IL-1 blockade in autoinflammatory syndromes.

Annu Rev Med 2014 ;65:223-44

Translational Autoinflammatory Disease Section, National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health, Bethesda, Maryland 20982; email:

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http://www.annualreviews.org/doi/10.1146/annurev-med-061512-
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http://dx.doi.org/10.1146/annurev-med-061512-150641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178953PMC
September 2014

Deficiency of interleukin-1 receptor antagonist responsive to anakinra.

Pediatr Dermatol 2013 Nov-Dec;30(6):758-60. Epub 2012 Apr 4.

Division of Pediatrics, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Columbia Hospital/Nova Southeastern University, West Palm Beach, FloridaNational Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MarylandDivision of Rheumatology, Miami Children's Hospital, Miami, Florida.

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http://dx.doi.org/10.1111/j.1525-1470.2012.01725.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548019PMC
August 2014

Behçet syndrome manifestations and activity in the United States versus Turkey -- a cross-sectional cohort comparison.

J Rheumatol 2014 Jul 15;41(7):1379-84. Epub 2014 Jun 15.

From the Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Bethesda, Maryland; Department of Rheumatology, Oregon Health and Science University, Portland, Oregon; Department of Rheumatology, New York University, New York, New York, USA; Department of Rheumatology, University of Istanbul Cerrahpasa, Istanbul, Turkey.C. Sibley, MD, MHS, Translational Autoinflammatory Disease Section, NIAMS at the NIH; and Department of Rheumatology, Oregon Health and Science University; Y. Yazici, MD, Department of Rheumatology, New York University; K. Tascilar, MD, Department of Rheumatology, University of Istanbul Cerrahpasa; N. Khan, BS, Translational Autoinflammatory Disease Section, NIAMS at the NIH; Y. Bata, BA, Department of Rheumatology, New York University; H. Yazici, MD, Department of Rheumatology, University of Istanbul Cerrahpasa; R. Goldbach-Mansky, MD, MHS, Translational Autoinflammatory Disease Section, NIAMS at the NIH; G. Hatemi, MD, Department of Rheumatology, University of Istanbul Cerrahpasa.

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http://dx.doi.org/10.3899/jrheum.131227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565792PMC
July 2014

Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases.

J Immunol 2014 Mar 7;192(6):2551-63. Epub 2014 Feb 7.

Neuroimmunological Diseases Unit, Neuroimmunology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20892;

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http://dx.doi.org/10.4049/jimmunol.1302884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045479PMC
March 2014

Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.

Rheum Dis Clin North Am 2013 Nov 21;39(4):701-34. Epub 2013 Sep 21.

Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Building 10, Room 6D47-B, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.rdc.2013.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888876PMC
November 2013

Monogenic autoinflammatory diseases: concept and clinical manifestations.

Clin Immunol 2013 Jun 9;147(3):155-74. Epub 2013 Apr 9.

Translational Autoinflammatory Diseases Section, National Institute of Arthritis, Musculoskeletal and Skin diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD 20814, USA.

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http://dx.doi.org/10.1016/j.clim.2013.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769788PMC
June 2013

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

Nature 2012 Dec 11;492(7427):123-7. Epub 2012 Nov 11.

Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.usahealthsystem.com/workfiles/com_docs%2Facademic
Web Search
http://www.nature.com/doifinder/10.1038/nature11588
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http://dx.doi.org/10.1038/nature11588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175565PMC
December 2012

Current status of understanding the pathogenesis and management of patients with NOMID/CINCA.

Curr Rheumatol Rep 2011 Apr;13(2):123-31

Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Building 10, Room 6D-47B, 10 Center Drive, Bethesda, MD 20892, USA.

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http://link.springer.com/10.1007/s11926-011-0165-y
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http://dx.doi.org/10.1007/s11926-011-0165-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3195512PMC
April 2011

Accurate and simple measurement of the pro-inflammatory cytokine IL-1β using a whole blood stimulation assay.

J Vis Exp 2011 Mar 1(49). Epub 2011 Mar 1.

Translational Immunology Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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http://www.jove.com/index/Details.stp?ID=2662
Publisher Site
http://dx.doi.org/10.3791/2662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197325PMC
March 2011

Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors.

Hum Mol Genet 2011 Jan 11;20(1):165-75. Epub 2010 Oct 11.

PDEGEN, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddq455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000682PMC
January 2011

Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.

Curr Opin Rheumatol 2010 Sep;22(5):567-78

Translational Autoinflammatory Disease Section, MSC 1560, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/BOR.0b013e32833ceff4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3020910PMC
September 2010

Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals.

Clin Immunol 2010 May 30;135(2):210-22. Epub 2010 Mar 30.

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Translational Autoinflammatory Disease Section, USA.

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http://dx.doi.org/10.1016/j.clim.2010.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856775PMC
May 2010

Autoinflammatory disease reloaded: a clinical perspective.

Cell 2010 Mar;140(6):784-90

Laboratory of Clinical Investigation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286741000238
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http://dx.doi.org/10.1016/j.cell.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3541025PMC
March 2010

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses.

J Allergy Clin Immunol 2009 Dec;124(6):1141-9; quiz 1150-1

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.jaci.2009.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995268PMC
December 2009

Blocking interleukin-1 in rheumatic diseases.

Ann N Y Acad Sci 2009 Dec;1182:111-23

National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1111/j.1749-6632.2009.05159.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080043PMC
December 2009

The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies.

Curr Allergy Asthma Rep 2008 Jul;8(4):288-98

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health Building 10, Room 6N-216A, 10 Center Drive, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735099PMC
July 2008

Diurnal secretion of growth hormone, cortisol, and dehydroepiandrosterone in pre- and perimenopausal women with active rheumatoid arthritis: a pilot case-control study.

Arthritis Res Ther 2007 ;9(4):R73

Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/ar2271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2206381PMC
April 2008

The spectrum of autoinflammatory diseases: recent bench to bedside observations.

Curr Opin Rheumatol 2008 Jan;20(1):66-75

Genetics and Genomics Branch, Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1097/BOR.0b013e3282f1bf4bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565798PMC
January 2008

The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Anesth Analg 2007 Aug;105(2):351-7

Department of Anesthesia and Surgical Services, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892-1512, USA.

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http://dx.doi.org/10.1213/01.ane.0000270764.99119.1bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380421PMC
August 2007