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Items: 1 to 20 of 63

1.

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Peciuliene S, Burnyte B, Gudaitiene R, Rusoniene S, Drazdiene N, Liubsys A, Utkus A.

Pediatr Rheumatol Online J. 2016 Mar 25;14(1):19. doi: 10.1186/s12969-016-0081-9. Review.

2.

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

Durel CA, Aouba A, Bienvenu B, Deshayes S, Coppéré B, Gombert B, Acquaviva-Bourdain C, Hachulla E, Lecomte F, Touitou I, Ninet J, Philit JB, Messer L, Brouillard M, Girard-Madoux MH, Moutschen M, Raison-Peyron N, Hutin P, Duffau P, Trolliet P, Hatron PY, Heudier P, Cevallos R, Lequerré T, Brousse V, Lesire V, Audia S, Maucort-Boulch D, Cuisset L, Hot A.

Medicine (Baltimore). 2016 Mar;95(11):e3027. doi: 10.1097/MD.0000000000003027.

3.

Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.

Yang JA, Choi JY, Kang EH, Ha YJ, Lee YJ, Song YW.

J Korean Med Sci. 2016 Feb;31(2):196-201. doi: 10.3346/jkms.2016.31.2.196.

4.

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.

Demirkaya E, Saglam C, Turker T, Koné-Paut I, Woo P, Doglio M, Amaryan G, Frenkel J, Uziel Y, Insalaco A, Cantarini L, Hofer M, Boiu S, Duzova A, Modesto C, Bryant A, Rigante D, Papadopoulou-Alataki E, Guillaume-Czitrom S, Kuemmerle-Deschner J, Neven B, Lachmann H, Martini A, Ruperto N, Gattorno M, Ozen S; Paediatric Rheumatology International Trials Organisations (PRINTO).; Eurofever Project..

J Rheumatol. 2016 Jan;43(1):154-60. doi: 10.3899/jrheum.141249.

PMID:
26568587
5.

Anti-interleukin 6 receptor therapy for hyper-IgD syndrome.

Musters A, Tak PP, Baeten DL, Tas SW.

BMJ Case Rep. 2015 Oct 29;2015. pii: bcr2015210513. doi: 10.1136/bcr-2015-210513.

PMID:
26516243
6.
7.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

Bianco AM, Faletra F, Vozzi D, Girardelli M, Knowles A, Tommasini A, Zauli G, Marcuzzi A.

Mol Med Rep. 2015 Oct;12(4):6128-32. doi: 10.3892/mmr.2015.4215.

PMID:
26300074
8.

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.

Hernández-Rodríguez J, Ruíz-Ortiz E, Tomé A, Espinosa G, González-Roca E, Mensa-Vilaró A, Prieto-González S, Espígol-Frigolé G, Mensa J, Cardellach F, Grau JM, Cid MC, Yagüe J, Aróstegui JI, Cervera R.

Autoimmun Rev. 2016 Jan;15(1):9-15. doi: 10.1016/j.autrev.2015.08.008. Review.

PMID:
26299986
9.

Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link.

Tricarico PM, Crovella S, Celsi F.

Int J Mol Sci. 2015 Jul 15;16(7):16067-84. doi: 10.3390/ijms160716067. Review.

10.

Treatment of adult hyper-IgD syndrome with canakinumab.

Curtis CD, Fox CC.

J Allergy Clin Immunol Pract. 2015 Sep-Oct;3(5):817-8. doi: 10.1016/j.jaip.2015.05.020. No abstract available.

PMID:
26116953
11.

Recommendations for the management of autoinflammatory diseases.

ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB.

Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Review.

12.

Alendronate, a double-edged sword acting in the mevalonate pathway.

Tricarico PM, Girardelli M, Kleiner G, Knowles A, Valencic E, Crovella S, Marcuzzi A.

Mol Med Rep. 2015 Sep;12(3):4238-42. doi: 10.3892/mmr.2015.3957.

13.

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Mulders-Manders CM, Simon A.

Semin Immunopathol. 2015 Jul;37(4):371-6. doi: 10.1007/s00281-015-0492-6. Review.

14.

Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency: Comment on the Article by Schulert et al.

Rigante D.

Arthritis Care Res (Hoboken). 2015 Nov;67(11):1615. doi: 10.1002/acr.22622. No abstract available.

15.

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.

Reitzle L, Maier B, Stojanov S, Teupser D, Muntau AC, Vogeser M, Gersting SW.

Clin Biochem. 2015 Aug;48(12):781-7. doi: 10.1016/j.clinbiochem.2015.05.007.

PMID:
25982894
16.

Different presentations of mevalonate kinase deficiency: a case series.

De Pieri C, Taddio A, Insalaco A, Barbi E, Lepore L, Ventura A, Tommasini A.

Clin Exp Rheumatol. 2015 May-Jun;33(3):437-42.

PMID:
25897835
17.

Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.

Rigante D, Emmi G, Fastiggi M, Silvestri E, Cantarini L.

Clin Rheumatol. 2015 Aug;34(8):1333-9. doi: 10.1007/s10067-015-2923-0. Review.

PMID:
25846831
18.

The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.

Bascherini V, Granato C, Lopalco G, Emmi G, Vannozzi L, Bacherini D, Franceschini R, Iannone F, Salerni A, Molinaro F, Messina M, Frediani B, Selmi C, Rigante D, Cantarini L.

Clin Rheumatol. 2015 Jul;34(7):1171-80. doi: 10.1007/s10067-015-2920-3. Review.

PMID:
25833143
19.

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.

J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.

PMID:
25781538
20.

Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey.

Rossi-Semerano L, Fautrel B, Wendling D, Hachulla E, Galeotti C, Semerano L, Touitou I, Koné-Paut I; MAIL1 (Maladies Auto-inflammatoires et Anti-IL-1) study Group on behalf of CRI (Club Rhumatisme et Inflammation)..

Orphanet J Rare Dis. 2015 Feb 15;10:19. doi: 10.1186/s13023-015-0228-7.

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