Gibson KM - Search Results

1

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR. Houten SM, et al. Among authors: gibson km. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

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

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK. Narisawa K, et al. Among authors: gibson km. J Clin Invest. 1986 Apr;77(4):1148-52. doi: 10.1172/JCI112415. J Clin Invest. 1986. PMID: 3082934 Free PMC article.

4

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Ibel H, Endres W, Hadorn HB, Deufel T, Paetzke I, Duran M, Kennaway NG, Gibson KM. Ibel H, et al. Among authors: gibson km. Eur J Pediatr. 1993 Aug;152(8):665-70. doi: 10.1007/BF01955244. Eur J Pediatr. 1993. PMID: 7691603

5

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Gibson KM, Cassidy SB, Seaver LH, Wanders RJ, Kennaway NG, Mitchell GA, Spark RP. Gibson KM, et al. J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810. J Inherit Metab Dis. 1994. PMID: 7807935 No abstract available.

6

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

Wang SP, Robert MF, Gibson KM, Wanders RJ, Mitchell GA. Wang SP, et al. Among authors: gibson km. Genomics. 1996 Apr 1;33(1):99-104. doi: 10.1006/geno.1996.0164. Genomics. 1996. PMID: 8617516

7

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

Dupuis L, Leon-Del-Rio A, Leclerc D, Campeau E, Sweetman L, Saudubray JM, Herman G, Gibson KM, Gravel RA. Dupuis L, et al. Among authors: gibson km. Hum Mol Genet. 1996 Jul;5(7):1011-6. doi: 10.1093/hmg/5.7.1011. Hum Mol Genet. 1996. PMID: 8817339

8

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H. Mitchell GA, et al. Among authors: gibson km. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Am J Hum Genet. 1998. PMID: 9463337 Free PMC article.

9

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM. Hinson DD, et al. Among authors: gibson km. Am J Med Genet. 1998 Aug 6;78(5):408-12. Am J Med Genet. 1998. PMID: 9714005

10

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, Gibson KM. Hinson DD, et al. Among authors: gibson km. Am J Hum Genet. 1999 Aug;65(2):327-35. doi: 10.1086/302489. Am J Hum Genet. 1999. PMID: 10417275 Free PMC article.

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