Gibson KM - Search Results

1

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF. Prietsch V, et al. Among authors: gibson km. Pediatrics. 2003 Feb;111(2):258-61. doi: 10.1542/peds.111.2.258. Pediatrics. 2003. PMID: 12563048

2

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

Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, Smit GP. Gibson KM, et al. Eur J Pediatr. 1988 Dec;148(3):250-2. doi: 10.1007/BF00441413. Eur J Pediatr. 1988. PMID: 2850914

3

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, et al. Hoffmann GF, et al. Among authors: gibson km. Pediatrics. 1993 May;91(5):915-21. Pediatrics. 1993. PMID: 8386351

4

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

Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM. Hoffmann GF, et al. Among authors: gibson km. J Inherit Metab Dis. 1992;15(5):738-46. doi: 10.1007/BF01800016. J Inherit Metab Dis. 1992. PMID: 1331607

5

Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.

Hoffmann G, Gibson KM, Nyhan WL, Sweetman L. Hoffmann G, et al. Among authors: gibson km. J Inherit Metab Dis. 1988;11 Suppl 2:229-32. doi: 10.1007/BF01804243. J Inherit Metab Dis. 1988. PMID: 2846965 No abstract available.

6

Neurological manifestations of organic acid disorders.

Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Hoffmann GF, et al. Among authors: gibson km. Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. doi: 10.1007/BF02138786. Eur J Pediatr. 1994. PMID: 7957396 Review.

7

Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.

Hübner C, Hoffmann GF, Charpentier C, Gibson KM, Finckh B, Puhl H, Lehr HA, Kohlschütter A. Hübner C, et al. Among authors: gibson km. Pediatr Res. 1993 Aug;34(2):129-33. doi: 10.1203/00006450-199308000-00004. Pediatr Res. 1993. PMID: 8233712

8

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: gibson km. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

9

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Among authors: gibson km. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555

10

4-Hydroxybutyric aciduria in a patient without ataxia or convulsions.

Gibson KM, Hoffmann G, Nyhan WL, Aramaki S, Thompson JA, Goodman SI, Johnson DA, Fife RR. Gibson KM, et al. Eur J Pediatr. 1988 Jun;147(5):529-31. doi: 10.1007/BF00441983. Eur J Pediatr. 1988. PMID: 3409929

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