Novel mutations causing hyperimmunoglobulin d and periodic fever syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-012-0099-0.pdf
Reference10 articles.
1. Drenth JP, Van Der Meer JW. Hereditary periodic fever. New Eng J Med. 2001; 345:1748–1757.
2. Mandey SHL, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006;27:796–802.
3. Lawrence A, Hol F, Aggarwal A, Drenth JPH. Hyperimmunoglobulinemia D syndrome in India: report of two siblings with a novel mutation. Ann Rheum Dis. 2006;65:1674–1676.
4. Schneiders MS, Houten SM, Turkenburg M, Wanders RJ, Waterham HR. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum. 2006;54:2306–2313.
5. Houten SM, Frenkel J, Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci. 2003;60:1118–1134.
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1. Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome;PLOS ONE;2020-08-21
2. Le déficit en mévalonate kinase en 2016;La Revue de Médecine Interne;2018-04
3. Genetics of Mevalonate Kinase Deficiency;eLS;2017-07-17
4. Screening Inherited Metabolic Disorders in Patients with Familial Mediterranean Fever;The Journal of Pediatric Research;2015-12-20
5. Hyperimmunoglobulin D syndrome in an Indian family undiagnosed for 11 years;International Journal of Rheumatic Diseases;2015-12-01
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