Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?-Reference-Cited by-同舟云学术

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Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

Published:2001-06 Issue:3 Volume:24 Page:413-414
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Tsimaratos M.¹,Kone-Paut I.²,Divry P.³,Philip N.⁴,Chabrol B.⁵

Affiliation:

1. ; Unité de Néphrologie, Service de Pédiatrie Multidisciplinaire; Hôpital d'Enfants-Groupe Hospitalier, Timone; Marseille

2. ; Service de Pédiatrie; Hôpital Nord, Marseille; Italy

3. ; Service de Biochimie; Hôpital Debrousse; Lyon

4. ; Service de Génétique; Hôpital d'Enfants-Groupe Hospitalier Timone; Marseille

5. ; Service de Neurologie Pédiatrique; Hôpital d'Enfants-Groupe Hospitalier Timone; Marseille France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1010577207726/fullpdf

Reference6 articles.

1. International Hyper-IgD Study Group: Mutations in the gene encoding mevalonate kinase cause hyperimmunoglobulinaemia D and periodic fever syndrome;Drent;Nature Genetics,1999

2. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry;Hinson;Am J Hum Genet,1999

3. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria;Hoffmann;Pediatrics,1993

4. Mutations in MVK, encoding mevalonate kinase, cause hyper-IgD and periodic fever syndrome;Houten;Nature Genetics,1999

5. Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy;Mancini;Pediatr Neurol,1993

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1. Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes;Journal of Genetic Engineering and Biotechnology;2021-12

2. Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review;Genes & Diseases;2021-06

3. Le déficit en mévalonate kinase en 2016;La Revue de Médecine Interne;2018-04

4. Étude rétrospective du suivi de patients avant un diagnostic de déficit en mévalonate kinase;Revue du Rhumatisme;2016-03

5. A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency;Joint Bone Spine;2015-07

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