Coulter-Mackie MB - Search Results

1

Aspartylglucosaminuria in a Canadian family.

Gordon BA, Rupar CA, Rip JW, Haust MD, Coulter-Mackie MB, Scott E, Hinton GG. Gordon BA, et al. Clin Invest Med. 1998 Jun;21(3):114-23. Clin Invest Med. 1998. PMID: 9627765

2

Purification and structure of human liver aspartylglucosaminidase.

Rip JW, Coulter-Mackie MB, Rupar CA, Gordon BA. Rip JW, et al. Biochem J. 1992 Dec 15;288 ( Pt 3)(Pt 3):1005-10. doi: 10.1042/bj2881005. Biochem J. 1992. PMID: 1281977 Free PMC article.

3

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.

Coulter-Mackie MB, Rip J, Beis MJ, Ferreira P, Ludman MD. Coulter-Mackie MB, et al. J Med Genet. 2001 May;38(5):E15. doi: 10.1136/jmg.38.5.e15. J Med Genet. 2001. PMID: 11333871 Free PMC article. No abstract available.

4

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DE. Coulter-Mackie MB, et al. J Med Genet. 1995 Oct;32(10):787-91. doi: 10.1136/jmg.32.10.787. J Med Genet. 1995. PMID: 8558556 Free PMC article.

5

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

Coulter-Mackie MB, Gagnier L, Beis MJ, Applegarth DA, Cole DE, Gordon K, Ludman MD. Coulter-Mackie MB, et al. J Med Genet. 1997 Jun;34(6):493-8. doi: 10.1136/jmg.34.6.493. J Med Genet. 1997. PMID: 9192271 Free PMC article.

6

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.

Coulter-Mackie M, Gagnier L. Coulter-Mackie M, et al. Am J Med Genet. 1997 Nov 28;73(1):32-5. doi: 10.1002/(sici)1096-8628(19971128)73:1<32::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9375919

7

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.

Coulter-Mackie MB, Gagnier L. Coulter-Mackie MB, et al. Mol Genet Metab. 2003 Jun;79(2):91-8. doi: 10.1016/s1096-7192(03)00077-5. Mol Genet Metab. 2003. PMID: 12809638

8

Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.

Coulter-Mackie MB, Applegarth DA, Toone JR, Gagnier L, Anzarut AR, Hendson G. Coulter-Mackie MB, et al. Can J Neurol Sci. 2002 May;29(2):159-63. Can J Neurol Sci. 2002. PMID: 12035837

9

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

Coulter-Mackie MB, Applegarth DA, Toone J, Vallance H. Coulter-Mackie MB, et al. Clin Biochem. 1997 Feb;30(1):57-61. doi: 10.1016/s0009-9120(96)00124-5. Clin Biochem. 1997. PMID: 9056111

10

The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.

Coulter-Mackie MB, Lian Q, Applegarth D, Toone J. Coulter-Mackie MB, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):172-8. doi: 10.1016/j.ymgme.2005.05.005. Epub 2005 Jun 15. Mol Genet Metab. 2005. PMID: 15963748

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