Literature DB >> 10896295

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

B T Poll-The1, J Frenkel, S M Houten, W Kuis, M Duran, T J de Koning, L Dorland, M M de Barse, G J Romeijn, R J Wanders, H R Waterham.   

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Year:  2000        PMID： 10896295     DOI： 10.1023/a:1005635431364

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


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  7 in total

1.  Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

Authors:  S M Houten; J Frenkel; W Kuis; R J Wanders; B T Poll-The; H R Waterham
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis.

Authors:  B Lindenthal; A Simatupang; M T Dotti; A Federico; D Lütjohann; K von Bergmann
Journal:  J Lipid Res       Date:  1996-10       Impact factor: 5.922

3.  A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.

Authors:  J B de Klerk; M Duran; L Dorland; H A Brouwers; L Bruinvis; D Ketting
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  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

Review 5.  Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

Authors:  J P Drenth; C J Haagsma; J W van der Meer
Journal:  Medicine (Baltimore)       Date:  1994-05       Impact factor: 1.889

6.  Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.

Authors:  G F Hoffmann; S U Brendel; S R Scharfschwerdt; Y S Shin; I M Speidel; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

7.  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
  7 in total
  7 in total

1.  Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.

Authors:  S M Houten; J Frenkel; W Kuis; R J Wanders; B T Poll-The; H R Waterham
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

Authors:  M Di Rocco; U Caruso; H R Waterham; P Picco; A Loy; R J Wanders
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

3.  The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.

Authors:  Micol Romano; Z Serap Arici; David Piskin; Sara Alehashemi; Daniel Aletaha; Karyl Barron; Susanne Benseler; Roberta A Berard; Lori Broderick; Fatma Dedeoglu; Michelle Diebold; Karen Durrant; Polly Ferguson; Dirk Foell; Jonathan S Hausmann; Olcay Y Jones; Daniel Kastner; Helen J Lachmann; Ronald M Laxer; Dorelia Rivera; Nicola Ruperto; Anna Simon; Marinka Twilt; Joost Frenkel; Hal M Hoffman; Adriana A de Jesus; Jasmin B Kuemmerle-Deschner; Seza Ozen; Marco Gattorno; Raphaela Goldbach-Mansky; Erkan Demirkaya
Journal:  Arthritis Rheumatol       Date:  2022-05-27       Impact factor: 15.483

Review 4.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317

5.  Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).

Authors:  Jerold Jeyaratnam; Nienke M Ter Haar; Monique G M de Sain-van der Velden; Hans R Waterham; Mariëlle E van Gijn; Joost Frenkel
Journal:  JIMD Rep       Date:  2015-09-27

6.  Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.

Authors:  Marcia A Munoz; Oliver P Skinner; Etienne Masle-Farquhar; Julie Jurczyluk; Ya Xiao; Emma K Fletcher; Esther Kristianto; Mark P Hodson; Seán I O'Donoghue; Sandeep Kaur; Robert Brink; David G Zahra; Elissa K Deenick; Kristen A Perry; Avril Ab Robertson; Sam Mehr; Pravin Hissaria; Catharina M Mulders-Manders; Anna Simon; Michael J Rogers
Journal:  J Clin Invest       Date:  2022-10-03       Impact factor: 19.456

Review 7.  Mevalonate kinase deficiency: current perspectives.

Authors:  Leslie A Favier; Grant S Schulert
Journal:  Appl Clin Genet       Date:  2016-07-20
  7 in total

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