共 2 条
[1]
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
[J].
Beck, David B.
;
Ferrada, Marcela A.
;
Sikora, Keith A.
;
Ombrello, Amanda K.
;
Collins, Jason C.
;
Pei, Wuhong
;
Balanda, Nicholas
;
Ross, Daron L.
;
Ospina Cardona, Daniela
;
Wu, Zhijie
;
Patel, Bhavisha
;
Manthiram, Kalpana
;
Groarke, Emma M.
;
Gutierrez-Rodrigues, Fernanda
;
Hoffmann, Patrycja
;
Rosenzweig, Sofia
;
Nakabo, Shuichiro
;
Dillon, Laura W.
;
Hourigan, Christopher S.
;
Tsai, Wanxia L.
;
Gupta, Sarthak
;
Carmona-Rivera, Carmelo
;
Asmar, Anthony J.
;
Xu, Lisha
;
Oda, Hirotsugu
;
Goodspeed, Wendy
;
Barron, Karyl S.
;
Nehrebecky, Michele
;
Jones, Anne
;
Laird, Ryan S.
;
Deuitch, Natalie
;
Rowczenio, Dorota
;
Rominger, Emily
;
Wells, Kristina V.
;
Lee, Chyi-Chia R.
;
Wang, Weixin
;
Trick, Megan
;
Mullikin, James
;
Wigerblad, Gustaf
;
Brooks, Stephen
;
Dell'Orso, Stefania
;
Deng, Zuoming
;
Chae, Jae J.
;
Dulau-Florea, Alina
;
Malicdan, May C. V.
;
Novacic, Danica
;
Colbert, Robert A.
;
Kaplan, Mariana J.
;
Gadina, Massimo
;
Savic, Sinisa
.
NEW ENGLAND JOURNAL OF MEDICINE,
2020, 383 (27)
:2628-2638

Beck, David B.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ferrada, Marcela A.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Sikora, Keith A.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ombrello, Amanda K.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Collins, Jason C.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Pei, Wuhong
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Balanda, Nicholas
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ross, Daron L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA
Royal Free Hosp London NHS Fdn Trust, Natl Amyloidosis Ctr, London, England NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ospina Cardona, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wu, Zhijie
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Patel, Bhavisha
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Manthiram, Kalpana
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Groarke, Emma M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gutierrez-Rodrigues, Fernanda
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Hoffmann, Patrycja
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rosenzweig, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Nakabo, Shuichiro
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dillon, Laura W.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Hourigan, Christopher S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Tsai, Wanxia L.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gupta, Sarthak
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Carmona-Rivera, Carmelo
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Asmar, Anthony J.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Xu, Lisha
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Oda, Hirotsugu
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Goodspeed, Wendy
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Barron, Karyl S.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Nehrebecky, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Jones, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Laird, Ryan S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Deuitch, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rowczenio, Dorota
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rominger, Emily
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wells, Kristina V.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Lee, Chyi-Chia R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Pathol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wang, Weixin
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Trick, Megan
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Mullikin, James
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wigerblad, Gustaf
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Brooks, Stephen
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dell'Orso, Stefania
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Deng, Zuoming
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Chae, Jae J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dulau-Florea, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Malicdan, May C. V.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Novacic, Danica
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Colbert, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Kaplan, Mariana J.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gadina, Massimo
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Savic, Sinisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Natl Inst Hlth Res, Leeds Biomed Res Ctr, Leeds, W Yorkshire, England
Univ Leeds, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
[2]
Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure
[J].
Glaser, Cornelia
;
Rieg, Siegbert
;
Wiech, Thorsten
;
Scholz, Christine
;
Endres, Dominique
;
Stich, Oliver
;
Hasselblatt, Peter
;
Geissdoerfer, Walter
;
Bogdan, Christian
;
Serr, Annerose
;
Haecker, Georg
;
Voll, Reinhard E.
;
Thiel, Jens
;
Venhoff, Nils
.
ORPHANET JOURNAL OF RARE DISEASES,
2017, 12

Glaser, Cornelia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Rieg, Siegbert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Fac Med, Dept Med Gastroenterol Hepatol Endocrinol & Infec, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Wiech, Thorsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Hamburg, Inst Pathol, Nephropathol Sect, Martinistr 52, D-20246 Hamburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Scholz, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Bertoldstr 8, D-79098 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Endres, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Fac Med, Dept Psychiat, Sect Expt Neuropsychiat, Hauptstr 5, D-79104 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Stich, Oliver
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Dept Neurol, Med Ctr, Breisacher Str 86, D-79110 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Hasselblatt, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Fac Med, Dept Med Gastroenterol Hepatol Endocrinol & Infec, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Geissdoerfer, Walter
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ FAU Erlangen Nurnberg, Univ Klinikum Erlangen, Mikrobiol Inst, Klin Mikrobiol Immunol & Hyg, Wasserturmstr 3-5, D-91054 Erlangen, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Bogdan, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Friedrich Alexander Univ FAU Erlangen Nurnberg, Univ Klinikum Erlangen, Mikrobiol Inst, Klin Mikrobiol Immunol & Hyg, Wasserturmstr 3-5, D-91054 Erlangen, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Serr, Annerose
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Inst Microbiol & Hyg, Fac Med, Hermann Herder Str 11, D-79104 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Haecker, Georg
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Inst Microbiol & Hyg, Fac Med, Hermann Herder Str 11, D-79104 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Voll, Reinhard E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

Thiel, Jens
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Freiburg, Fac Med, Med Ctr, Dept Rheumatol & Clin Immunol, Hugstetter Str 55, D-79106 Freiburg, Germany

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