Publications by authors named "Derek A Applegarth"

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Michael A Swanson, Curtis R Coughlin, Gunter H Scharer, Heather J Szerlong, Kendra J Bjoraker, Derek A Applegarth

Ann Neurol· October 2015

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Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
Marion B Coulter-Mackie, Qun Lian, Derek A Applegarth, Jennifer Toone, Paula J Waters

Clin Biochem· May 2008

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Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations.
Derek A Applegarth, Jennifer R Toone

Am J Med Genet A· January 2006

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Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Jennifer R Toone, Derek A Applegarth, Harvey L Levy, Marion B Coulter-Mackie, Gary Lee

Mol Genet Metab· August 2003

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A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Nelson L S Tang, Joannie Hui, Collin K K Yong, Lawrence T K Wong, Derek A Applegarth

Clin Biochem· March 2003

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The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
Marion B Coulter-Mackie, Andrew Tung, Howard E Henderson, Jennifer R Toone, Derek A Applegarth

Mol Genet Metab· January 2003

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Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Mary Anna Carbone, Derek A Applegarth, Brian H Robinson

Hum Mutat· July 2002

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Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Jennifer R Toone, Derek A Applegarth, Shigeo Kure, Marion B Coulter-Mackie, Payam Sazegar

Mol Genet Metab· July 2002

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Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
Marion B Coulter-Mackie, Derek A Applegarth, Jennifer R Toone, Liane Gagnier, André R Anzarut

Can J Neurol Sci· May 2002

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Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy).
Derek A Applegarth, Marie-Odile Rolland, Jennifer R Toone, Marion Coulter-Mackie, Robert Saura

Prenat Diagn· March 2002

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