Coulter-Mackie MB - Search Results

1

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

2

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

3

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H. Coulter-Mackie MB, et al. Clin Biochem. 2008 May;41(7-8):598-602. doi: 10.1016/j.clinbiochem.2008.01.018. Epub 2008 Feb 7. Clin Biochem. 2008. PMID: 18282470

4

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.

5

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion.

Coulter-Mackie MB, Applegarth DA, Toone JR, Gagnier L. Coulter-Mackie MB, et al. Clin Biochem. 1998 Nov;31(8):627-32. doi: 10.1016/s0009-9120(98)00074-5. Clin Biochem. 1998. PMID: 9876894

6

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Toone JR, et al. Hum Mutat. 2001;17(1):76. doi: 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0. Hum Mutat. 2001. PMID: 11139253

7

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Toone JR, Applegarth DA, Kure S, Coulter-Mackie MB, Sazegar P, Kojima K, Ichinohe A. Toone JR, et al. Mol Genet Metab. 2002 Jul;76(3):243-9. doi: 10.1016/s1096-7192(02)00041-0. Mol Genet Metab. 2002. PMID: 12126939

8

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.

Coulter-Mackie MB, Tung A, Henderson HE, Toone JR, Applegarth DA. Coulter-Mackie MB, et al. Mol Genet Metab. 2003 Jan;78(1):44-50. doi: 10.1016/s1096-7192(02)00204-4. Mol Genet Metab. 2003. PMID: 12559847

9

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Toone JR, Applegarth DA, Levy HL, Coulter-Mackie MB, Lee G. Toone JR, et al. Mol Genet Metab. 2003 Aug;79(4):272-80. doi: 10.1016/s1096-7192(03)00115-x. Mol Genet Metab. 2003. PMID: 12948742

10

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.

Coulter-Mackie MB, Applegarth D, Toone JR, Henderson H. Coulter-Mackie MB, et al. Mol Genet Metab. 2004 May;82(1):64-8. doi: 10.1016/j.ymgme.2004.02.001. Mol Genet Metab. 2004. PMID: 15110324

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