Literature DB >> 3141709

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

J B de Klerk1, M Duran, L Dorland, H A Brouwers, L Bruinvis, D Ketting.   

Abstract

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Year:  1988        PMID： 3141709     DOI： 10.1007/bf01804244

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


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  4 in total

1.  Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

Authors:  R Berger; G P Smit; H Schierbeek; K Bijsterveld; R le Coultre
Journal:  Clin Chim Acta       Date:  1985-10-31       Impact factor: 3.786

2.  Determination of cholic acid and chenodeoxycholic acid pool sizes and fractional turnover rates by means of stable isotope dilution technique, making use of deuterated cholic acid and chenodeoxycholic acid.

Authors:  B J Koopman; F Kuipers; C M Bijleveld; J C van der Molen; G T Nagel; R J Vonk; B G Wolthers
Journal:  Clin Chim Acta       Date:  1988-07-15       Impact factor: 3.786

3.  Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Authors:  G Hoffmann; K M Gibson; I K Brandt; P I Bader; R S Wappner; L Sweetman
Journal:  N Engl J Med       Date:  1986-06-19       Impact factor: 91.245

4.  Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.

Authors:  M Duran; D Ketting; R van Vossen; T E Beckeringh; L Dorland; L Bruinvis; S K Wadman
Journal:  Clin Chim Acta       Date:  1985-11-15       Impact factor: 3.786
  4 in total
  4 in total

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

Authors:  B T Poll-The; 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
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Mevalonic aciduria.

Authors:  V Kozich; K M Gibson; J Zeman; J Nĕmecek; G F Hoffman; F Pehal; J Hyánek; A Grosmanová; P Verner
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.

Authors:  Merve Koç Yekedüz; Neslihan Doğulu; Ümmühan Öncül; Engin Köse; Serdar Ceylaner; Fatma Tuba Eminoğlu
Journal:  Mol Syndromol       Date:  2021-10-25

4.  Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.

Authors:  Marie-Louise von Linstow; Vibeke Rosenfeldt
Journal:  Case Rep Pediatr       Date:  2014-03-03
  4 in total

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