Wanders RJ - Search Results

1

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: wanders rj. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Am J Hum Genet. 1998. PMID: 9463337 Free PMC article.

2

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: wanders rj. Genomics. 1996 Apr 1;33(1):99-104. doi: 10.1006/geno.1996.0164. Genomics. 1996. PMID: 8617516

3

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. Among authors: wanders rj. J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810. J Inherit Metab Dis. 1994. PMID: 7807935 No abstract available.

4

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: wanders rj. Hum Mol Genet. 1999 Aug;8(8):1523-8. doi: 10.1093/hmg/8.8.1523. Hum Mol Genet. 1999. PMID: 10401001

5

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS. Madsen PP, et al. Among authors: wanders rj. Hum Genet. 2006 Feb;118(6):680-90. doi: 10.1007/s00439-005-0070-4. Epub 2005 Nov 30. Hum Genet. 2006. PMID: 16317551

6

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: wanders rj. Eur J Hum Genet. 2001 Apr;9(4):253-9. doi: 10.1038/sj.ejhg.5200595. Eur J Hum Genet. 2001. PMID: 11313768

7

Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency.

Song XQ, Fukao T, Mitchell GA, Kassovska-Bratinova S, Ugarte M, Wanders RJ, Hirayama K, Shintaku H, Churchill P, Watanabe H, Orii T, Kondo N. Song XQ, et al. Among authors: wanders rj. Biochim Biophys Acta. 1997 Apr 12;1360(2):151-6. doi: 10.1016/s0925-4439(96)00074-9. Biochim Biophys Acta. 1997. PMID: 9128180 Free article.

8

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Fukao T, et al. Among authors: wanders rj. Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. Genomics. 2000. PMID: 10964512

9

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Sakurai S, et al. Among authors: wanders rj. Mol Genet Metab. 2007 Apr;90(4):370-8. doi: 10.1016/j.ymgme.2006.12.002. Epub 2007 Jan 22. Mol Genet Metab. 2007. PMID: 17236799

10

[No title available]

[No authors listed] [No authors listed] PMID: 32989766

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