Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

Durel Cecile-Audrey; Aouba Achille; Bienvenu Boris; Deshayes Samuel; Coppere Brigitte; Gombert Bruno; Acquaviva-Bourdain Cecile; Hachulla Eric; Lecomte Frederic; Touitou Isabelle; Ninet Jacques; Philit Jean-Baptiste; Messer Laurent; Brouillard Marc; Girard-Madoux Marie-Helene; Moutschen Michel; Raison-Peyron Nadia; Hutin Pascal; Duffau Pierre; Trolliet Pierre; Hatron Pierre-Yves; Heudier Philippe; Cevallos Ramiro; Lequerre Thierry; Brousse Valentine; Lesire Vincent; Audia Sylvain; Maucort-Boulch Delphine; Cuisset Laurence; Hot Arnaud

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Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

机译：Adumalate激酶缺乏的法国和比利时多中心队列的23例患者的法国和比利时多中心队列的观察研究

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摘要

The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood.

机译：本研究的目的是描述甲羟戊酸激酶缺乏（MKD）的临床和生物学特征在已诊断为于成年期。

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来源
《Medicine.》 |2016年第11期|共7页
作者
Durel Cecile-Audrey; Aouba Achille; Bienvenu Boris; Deshayes Samuel; Coppere Brigitte; Gombert Bruno; Acquaviva-Bourdain Cecile; Hachulla Eric; Lecomte Frederic; Touitou Isabelle; Ninet Jacques; Philit Jean-Baptiste; Messer Laurent; Brouillard Marc; Girard-Madoux Marie-Helene; Moutschen Michel; Raison-Peyron Nadia; Hutin Pascal; Duffau Pierre; Trolliet Pierre; Hatron Pierre-Yves; Heudier Philippe; Cevallos Ramiro; Lequerre Thierry; Brousse Valentine; Lesire Vincent; Audia Sylvain; Maucort-Boulch Delphine; Cuisset Laurence; Hot Arnaud;
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作者单位

Hop Edouard Herriot Dept Internal Med 5 Pl dArsonval F-69437 Lyon 03 France;

Cote Nacre Hosp Dept Internal Med Caen France;

Cote Nacre Hosp Dept Internal Med Caen France;

Cote Nacre Hosp Dept Internal Med Caen France;

Hop Edouard Herriot Dept Internal Med 5 Pl dArsonval F-69437 Lyon 03 France;

St Louis Hosp Med &

Rheumatol Dept La Rochelle France;

Civil Hosp Lyon Inborn Errors Metab Lab Bron France;

Claude Huriez Hosp Dept Internal Med Lille France;

Cornouaille Hosp Ctr Polyvalent Med Dept Quimper France;

Arnaud Villeuneuve Hosp Autoinflammatory Dis Med Unit Montpellier France;

Hop Edouard Herriot Dept Internal Med 5 Pl dArsonval F-69437 Lyon 03 France;

Metropole Savoie Hosp Ctr Dept Nephrol Chambery France;

Louis Pasteur Hosp Dept Rheumatol Colmar France;

Arras Hosp Ctr Dept Hematol Arras France;

Hop Edouard Herriot Dept Internal Med 5 Pl dArsonval F-69437 Lyon 03 France;

Sart Tilman Dept Internal Med Liege Belgium;

St Eloi Hosp Dermatol &

Allergol Dept Montpellier France;

St Andre Hosp Dept Internal Med Bordeaux France;

Ctr Hosp Lyon Sud Dept Nephrol F-69310 Pierre Benite France;

Claude Huriez Hosp Dept Internal Med Lille France;

Cornouaille Hosp Ctr Polyvalent Med Dept Quimper France;

St Vincent Hosp Ctr Dept Internal Med Strasbourg France;

Charles Nicole Hosp Dept Rheumatol Rouen France;

Necker Enfants Malades Hosp Dept Pediat Paris France;

Blois Hosp Ctr Diabetol &

Internal Med Dept Blois France;

Bocage Cent Dept Internal Med Dijon France;

Univ Lyon 1 Hosp Civiles Lyon Serv Biostat F-69622 Villeurbanne France;

Hosp &

Inst Cochin Dept Biochem Genet Paris France;

Hop Edouard Herriot Dept Internal Med 5 Pl dArsonval F-69437 Lyon 03 France;

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正文语种 eng
中图分类医药、卫生;
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专利

1. Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency [J] . Durel Cécile-Audrey, Aouba Achille, Bienvenu Boris, Medicine. . 2016,第11期

机译：法国和比利时多中心队列的23例诊断为甲羟戊酸激酶缺乏的成年患者的观察性研究
2. Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency [J] . Durel Cecile-Audrey, Aouba Achille, Bienvenu Boris, Medicine. . 2016,第11期

机译：法国和比利时多中心队列的23例诊断为甲羟戊酸激酶缺乏的成年患者的观察性研究
3. Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency [J] . Durel Cecile-Audrey, Aouba Achille, Bienvenu Boris, Medicine. . 2016,第11期

机译：Adumalate激酶缺乏的法国和比利时多中心队列的23例患者的法国和比利时多中心队列的观察研究
4. A Multicenter Prospective Cohort Study of Tonsillectomy and Steroid Therapy in Japanese Patients with IgA Nephropathy: A 5-Year Report [C] . Mariko Miyazaki, Osamu Hotta, Atsushi Komatsud International Symposium on IgA Nephropathy . 2007

机译：日本IGA肾病患者扁桃体切除术和类固醇治疗的多中心前瞻性队列研究：5年报告
5. Clinical impact of endocapillary proliferation according to the Oxford classification among adults with Henoch-Sch?nlein purpura nephritis: a multicenter retrospective cohort study [D] . Inagaki Koji, 稲垣浩司 2019

机译：成人牛Henoch-Sch？nlein紫癜性肾炎根据牛津分类对毛细血管内膜增生的临床影响：一项多中心回顾性队列研究
6. Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency [O] . Cécile-Audrey Durel, Achille Aouba, Boris Bienvenu, -1

机译：法国和比利时多中心队列的23例诊断为甲羟戊酸激酶缺乏的成年患者的观察性研究
7. Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency. [O] . Durel, Cecile-Audrey, Aouba, Achille, Bienvenu, Boris, 2016

机译：法国和比利时的多中心队列研究的23例诊断为甲羟戊酸激酶缺乏的成年患者的观察性研究。

Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

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