Mevalonate kinase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Mevalonate kinase deficiency" in English language version.

refsWebsite

Global rank English rank

17nih.gov

4^th place

14doi.org

2^nd place

6semanticscholar.org

11^th place

8^th place

3worldcat.org

5^th place

1omim.org

4,380^th place

4,305^th place

1rarediseases.org

5,181^st place

3,260^th place

1bmj.com

1,226^th place

1,421^st place

bmj.com

ard.bmj.com

Kozlova, A.; Mamzerova, E.; Maschan, A.; Shcherbina, A. (2014-06-01). "AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB)". Annals of the Rheumatic Diseases. 73 (Suppl 2): 1103–4. doi:10.1136/annrheumdis-2014-eular.3697. ISSN 0003-4967. S2CID 75513414.

doi.org

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–June 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–6. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
van der Meer JW, Vossen JM, Radl J, et al. (May 1984). "Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet. 1 (8386): 1087–90. doi:10.1016/S0140-6736(84)92505-4. PMID 6144826. S2CID 43579408.
Drenth JP, van der Meer JW (December 2001). "Hereditary periodic fever". N. Engl. J. Med. 345 (24): 1748–57. doi:10.1056/NEJMra010200. PMID 11742050.
Drenth JP, Cuisset L, Grateau G, et al. (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262. S2CID 22522985.
Houten SM, Kuis W, Duran M, et al. (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/969. PMID 10369261. S2CID 19807247.
Mulders-Manders, CM; Simon, A (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Semin Immunopathol. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
Park YH, Wood G, Kastner DL, Chae JJ (August 2016). "Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS". Nat Immunol. 17 (8): 914–21. doi:10.1038/ni.3457. PMC 4955684. PMID 27270401.
Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678. S2CID 38318961.
Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?". Clin. Chim. Acta. 152 (1–2): 219–222. doi:10.1016/0009-8981(85)90195-0. PMID 4053401.
Aróstegui, JI; Anton, J.; Calvo, I.; Robles, A.; Speziale, A.; Joubert, Y.; Junge, G.; Yagüe, J. (2015-01-01). "Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study". Pediatric Rheumatology. 13 (1): O58. doi:10.1186/1546-0096-13-S1-O58. ISSN 1546-0096. PMC 4596954.
Kozlova, A.; Mamzerova, E.; Maschan, A.; Shcherbina, A. (2014-06-01). "AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB)". Annals of the Rheumatic Diseases. 73 (Suppl 2): 1103–4. doi:10.1136/annrheumdis-2014-eular.3697. ISSN 0003-4967. S2CID 75513414.
Takada, Kazuki; Aksentijevich, Ivona; Mahadevan, Vijayabhanu; Dean, Jane A.; Kelley, Richard I.; Kastner, Daniel L. (2003-09-01). "Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome". Arthritis and Rheumatism. 48 (9): 2645–51. doi:10.1002/art.11218. ISSN 0004-3591. PMID 13130485.
Rigante D, Ansuini V, Bertoni B, et al. (November 2006). "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int. 27 (1): 97–100. doi:10.1007/s00296-006-0164-x. PMID 16871408. S2CID 20846202.
Cantarini, L; Vitale, A; Magnotti, F; Lucherini, O. M.; Caso, F; Frediani, B; Galeazzi, M; Rigante, D (2013). "Weekly oral alendronate in mevalonate kinase deficiency". Orphanet Journal of Rare Diseases. 8 (1): 196. doi:10.1186/1750-1172-8-196. PMC 3880037. PMID 24360083.

nih.gov

pubmed.ncbi.nlm.nih.gov

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N (May–June 1993). "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243–6. doi:10.1016/0887-8994(93)90095-T. PMID 8352861.
van der Meer JW, Vossen JM, Radl J, et al. (May 1984). "Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet. 1 (8386): 1087–90. doi:10.1016/S0140-6736(84)92505-4. PMID 6144826. S2CID 43579408.
Drenth JP, van der Meer JW (December 2001). "Hereditary periodic fever". N. Engl. J. Med. 345 (24): 1748–57. doi:10.1056/NEJMra010200. PMID 11742050.
Drenth JP, Cuisset L, Grateau G, et al. (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262. S2CID 22522985.
Houten SM, Kuis W, Duran M, et al. (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/969. PMID 10369261. S2CID 19807247.
Mulders-Manders, CM; Simon, A (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Semin Immunopathol. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
Park YH, Wood G, Kastner DL, Chae JJ (August 2016). "Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS". Nat Immunol. 17 (8): 914–21. doi:10.1038/ni.3457. PMC 4955684. PMID 27270401.
Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678. S2CID 38318961.
Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol biosynthesis?". Clin. Chim. Acta. 152 (1–2): 219–222. doi:10.1016/0009-8981(85)90195-0. PMID 4053401.
Takada, Kazuki; Aksentijevich, Ivona; Mahadevan, Vijayabhanu; Dean, Jane A.; Kelley, Richard I.; Kastner, Daniel L. (2003-09-01). "Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome". Arthritis and Rheumatism. 48 (9): 2645–51. doi:10.1002/art.11218. ISSN 0004-3591. PMID 13130485.
Rigante D, Ansuini V, Bertoni B, et al. (November 2006). "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int. 27 (1): 97–100. doi:10.1007/s00296-006-0164-x. PMID 16871408. S2CID 20846202.
Cantarini, L; Vitale, A; Magnotti, F; Lucherini, O. M.; Caso, F; Frediani, B; Galeazzi, M; Rigante, D (2013). "Weekly oral alendronate in mevalonate kinase deficiency". Orphanet Journal of Rare Diseases. 8 (1): 196. doi:10.1186/1750-1172-8-196. PMC 3880037. PMID 24360083.

ncbi.nlm.nih.gov

Mulders-Manders, CM; Simon, A (2015). "Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?". Semin Immunopathol. 37 (4): 371–6. doi:10.1007/s00281-015-0492-6. PMC 4491100. PMID 25990874.
Park YH, Wood G, Kastner DL, Chae JJ (August 2016). "Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS". Nat Immunol. 17 (8): 914–21. doi:10.1038/ni.3457. PMC 4955684. PMID 27270401.
Aróstegui, JI; Anton, J.; Calvo, I.; Robles, A.; Speziale, A.; Joubert, Y.; Junge, G.; Yagüe, J. (2015-01-01). "Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study". Pediatric Rheumatology. 13 (1): O58. doi:10.1186/1546-0096-13-S1-O58. ISSN 1546-0096. PMC 4596954.
Cantarini, L; Vitale, A; Magnotti, F; Lucherini, O. M.; Caso, F; Frediani, B; Galeazzi, M; Rigante, D (2013). "Weekly oral alendronate in mevalonate kinase deficiency". Orphanet Journal of Rare Diseases. 8 (1): 196. doi:10.1186/1750-1172-8-196. PMC 3880037. PMID 24360083.

ghr.nlm.nih.gov

"Mevalonate kinase deficiency".

omim.org

Online Mendelian Inheritance in Man (OMIM): MEVALONATE KINASE; MVK - 251170

rarediseases.org

"Mevalonate Kinase Deficiency".

semanticscholar.org

api.semanticscholar.org

van der Meer JW, Vossen JM, Radl J, et al. (May 1984). "Hyperimmunoglobulinaemia D and periodic fever: a new syndrome". Lancet. 1 (8386): 1087–90. doi:10.1016/S0140-6736(84)92505-4. PMID 6144826. S2CID 43579408.
Drenth JP, Cuisset L, Grateau G, et al. (June 1999). "Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group". Nat. Genet. 22 (2): 178–81. doi:10.1038/9696. PMID 10369262. S2CID 22522985.
Houten SM, Kuis W, Duran M, et al. (June 1999). "Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome". Nat. Genet. 22 (2): 175–7. doi:10.1038/969. PMID 10369261. S2CID 19807247.
Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: report of two cases". J. Inherit. Metab. Dis. 30 (5): 829. doi:10.1007/s10545-007-0618-7. PMID 17578678. S2CID 38318961.
Kozlova, A.; Mamzerova, E.; Maschan, A.; Shcherbina, A. (2014-06-01). "AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB)". Annals of the Rheumatic Diseases. 73 (Suppl 2): 1103–4. doi:10.1136/annrheumdis-2014-eular.3697. ISSN 0003-4967. S2CID 75513414.
Rigante D, Ansuini V, Bertoni B, et al. (November 2006). "Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome". Rheumatol. Int. 27 (1): 97–100. doi:10.1007/s00296-006-0164-x. PMID 16871408. S2CID 20846202.

worldcat.org

search.worldcat.org

Aróstegui, JI; Anton, J.; Calvo, I.; Robles, A.; Speziale, A.; Joubert, Y.; Junge, G.; Yagüe, J. (2015-01-01). "Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study". Pediatric Rheumatology. 13 (1): O58. doi:10.1186/1546-0096-13-S1-O58. ISSN 1546-0096. PMC 4596954.
Kozlova, A.; Mamzerova, E.; Maschan, A.; Shcherbina, A. (2014-06-01). "AB0918 Efficacy and Safety of Treatment of Children with Traps and Hids with IL1 Blocker (CANAKINUMAB)". Annals of the Rheumatic Diseases. 73 (Suppl 2): 1103–4. doi:10.1136/annrheumdis-2014-eular.3697. ISSN 0003-4967. S2CID 75513414.
Takada, Kazuki; Aksentijevich, Ivona; Mahadevan, Vijayabhanu; Dean, Jane A.; Kelley, Richard I.; Kastner, Daniel L. (2003-09-01). "Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome". Arthritis and Rheumatism. 48 (9): 2645–51. doi:10.1002/art.11218. ISSN 0004-3591. PMID 13130485.