Literature DB >> 11486910

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

M Tsimaratos1, I Kone-Paut, P Divry, N Philip, B Chabrol.   

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Year:  2001        PMID： 11486910     DOI： 10.1023/a:1010577207726

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  6 in total

1.  Crescentic glomerulonephritis in hyper IgD syndrome.

Authors:  M Tsimaratos; I Koné-Paut; L Daniel; M C Gubler; B Dussol; G Picon
Journal:  Pediatr Nephrol       Date:  1999-02       Impact factor: 3.714

2.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

3.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Authors:  J P Drenth; L Cuisset; G Grateau; C Vasseur; S D van de Velde-Visser; J G de Jong; J S Beckmann; J W van der Meer; M Delpech
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

4.  Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Authors:  D D Hinson; R M Ross; S Krisans; J L Shaw; V Kozich; M O Rolland; P Divry; J Mancini; G F Hoffmann; K M Gibson
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

5.  Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Authors:  J Mancini; N Philip; B Chabrol; P Divry; M O Rolland; N Pinsard
Journal:  Pediatr Neurol       Date:  1993 May-Jun       Impact factor: 3.372

6.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Authors:  G F Hoffmann; C Charpentier; E Mayatepek; J Mancini; M Leichsenring; K M Gibson; P Divry; M Hrebicek; W Lehnert; K Sartor
Journal:  Pediatrics       Date:  1993-05       Impact factor: 7.124
  6 in total
  4 in total

1.  Crescentic glomerulonephritis is part of hyperimmunoglobulinemia D syndrome.

Authors:  Mathilde Cailliez; Florentine Garaix; Caroline Rousset-Rouvière; Daniele Bruno; Laurent Daniel; Brigitte Chabrol; Jacques Sarles; Michel Tsimaratos
Journal:  Pediatr Nephrol       Date:  2006-09-01       Impact factor: 3.714

2.  Hyperimmunoglobulinemia D syndrome in an Arab child.

Authors:  Mohammed Hammoudeh
Journal:  Clin Rheumatol       Date:  2004-07-08       Impact factor: 2.980

Review 3.  Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

Authors:  Isabelle Touitou
Journal:  Genes Dis       Date:  2021-06-09

4.  Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Authors:  Abhinav Jain; Rahul C Bhoyar; Kavita Pandhare; Anushree Mishra; Disha Sharma; Mohamed Imran; Vigneshwar Senthivel; Mohit Kumar Divakar; Mercy Rophina; Bani Jolly; Arushi Batra; Sumit Sharma; Sanjay Siwach; Arun G Jadhao; Nikhil V Palande; Ganga Nath Jha; Nishat Ashrafi; Prashant Kumar Mishra; Vidhya A K; Suman Jain; Debasis Dash; Nachimuthu Senthil Kumar; Andrew Vanlallawma; Ranjan Jyoti Sarma; Lalchhandama Chhakchhuak; Shantaraman Kalyanaraman; Radha Mahadevan; Sunitha Kandasamy; Pabitha B M; Raskin Erusan Rajagopal; Ezhil Ramya J; Nirmala Devi P; Anjali Bajaj; Vishu Gupta; Samatha Mathew; Sangam Goswami; Mohit Mangla; Savinitha Prakash; Kandarp Joshi; Sreedevi S; Devarshi Gajjar; Ronibala Soraisham; Rohit Yadav; Yumnam Silla Devi; Aayush Gupta; Mitali Mukerji; Sivaprakash Ramalingam; Binukumar B K; Vinod Scaria; Sridhar Sivasubbu
Journal:  J Genet Eng Biotechnol       Date:  2021-12-14
  4 in total

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