Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome-Reference-Cited by-同舟云学术

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

Published:2000-06 Issue:4 Volume:23 Page:363-366
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Poll-The B. T.¹,Frenkel J.²,Houten S. M.³,Kuis W.⁴,Duran M.¹,de Koning T. J.¹,Dorland L.¹,de Barse M. M. J.¹,Romeijn G. J.³,Wanders R. J. A.³,Waterham H. R.³

Affiliation:

1. ; Department of Metabolic Disorders; University Medical Center Utrecht ‘Het Wilhelmina Kinderziekenhuis’; Utrecht The Netherlands

2. ; Department of General Pediatrics; University Medical Center Utrecht ‘Het Wilhelmina Kinderziekenhuis’; Utrecht The Netherlands

3. ; Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center; University of Amsterdam; The Netherlands

4. ; Department of Immunology; University Medical Center Utrecht ‘Het Wilhelmina Kinderziekenhuis’; Utrecht The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005635431364/fullpdf

Reference7 articles.

1. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis;De Klerk;J Inherit Metab Dis,1988

2. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients;Drenth;Medicine,1994

3. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria;Hoffmann;J Inherit Metab Dis,1992

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

5. Mutation in MVK, encoding mevalonate kinase, causes hyperimmunoglobulinaemia D and periodic fever syndrome;Houten;Nature Genetics,1999

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