Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.

× No keyword cloud information.

5 in total

1. Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence.

Authors: K L Chambliss; C A Slaughter; R Schreiner; G F Hoffmann; K M Gibson
Journal: J Biol Chem Date: 1996-07-19 Impact factor: 5.157

2. Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.

Authors: K M Gibson; J L Lohr; R L Broock; G Hoffmann; W L Nyhan; L Sweetman; I K Brandt; R S Wappner; P I Bader
Journal: Enzyme Date: 1989

3. Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.

Authors: G F Hoffmann; L Sweetman; H J Bremer; D H Hunneman; J Hyánek; V Kozich; W Lehnert; W L Nyhan; I Speidel; F K Trefz
Journal: Clin Chim Acta Date: 1991-05-15 Impact factor: 3.786

4. 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

5. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Authors: K M Gibson; G Hoffmann; W L Nyhan; L Sweetman; R Berger; R le Coultre; G P Smit
Journal: Eur J Pediatr Date: 1988-12 Impact factor: 3.183

5 in total

1 in total

Review 1. Disorders of cholesterol biosynthesis.

Authors: P T Clayton
Journal: Arch Dis Child Date: 1998-02 Impact factor: 3.791

1 in total