J. Toone

发表

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

M. Coulter-Mackie, D. Applegarth, Q. Lian, 2005, Molecular genetics and metabolism.

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

M. Coulter-Mackie, H. Henderson, D. Applegarth, 2004, Molecular genetics and metabolism.

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

K. Kojima, M. Coulter-Mackie, S. Kure, 2002, Molecular genetics and metabolism.

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

M. Coulter-Mackie, H. Henderson, D. Applegarth, 2003, Molecular genetics and metabolism.

Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene.

F. Jirik, L. Clarke, J. Dimmick, 1997, Human molecular genetics.

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

M. Coulter-Mackie, D. Applegarth, J. Toone, 2000, Molecular genetics and metabolism.

Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

D. Applegarth, J. Toone, RT*§; and R. Brian Lowry, 2000, Pediatrics.

Choline kinase and ethanolamine kinase are separate, soluble enzymes in rat liver.

P. Brophy, D. Vance, P. Choy, 1977, European journal of biochemistry.

The regulation of glutamine synthesis in the food yeast Candida utilis: the purification and subunit structure of glutamine synthetase and aspects of enzyme deactivation.

A. P. Sims, J. Toone, V. Box, 1974, Journal of general microbiology.

Natural history of nonketotic hyperglycinemia in 65 patients

A. Hamosh, J. Hoover-Fong, J. V. Van Hove, 2004, Neurology.

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

H. Szerlong, G. Matthijs, J. V. Van Hove, 2015, Annals of neurology.

Pyruvate dehydrogenase deficiency in Clumber and Sussex spaniels in the United States and Belgium

B. Barshop, S. Bhatti, D. Applegarth, 2000 .

The ultrastructure of skin from a patient with mucopolysaccharidosis IIID

J. Alroy, J. Hopwood, J. Rutledge, 1997, Acta Neuropathologica.

Identification of 6 new mutations in the iduronate sulfatase gene

H. Vallance, M. Coulter-Mackie, D. Applegarth, 1999, Human mutation.

Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation

L. Gagnier, M. Coulter-Mackie, G. Hendson, 2002, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Human Mucopolysaccharidosis IIID: Clinical, Biochemical, Morpholgical and Immunohistochemical Characteristics

D. Sillence, E. Alvord, J. Alroy, 1997, Journal of neuropathology and experimental neurology.

Murine α-l-Iduronidase: cDNA isolation and expression

M. Hayden, H. McDonald, L. Clarke, 1994 .

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

M. Coulter-Mackie, D. Applegarth, J. Toone, 2001, Molecular genetics and metabolism.

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

M. Coulter-Mackie, H. Levy, Gary Lee, 2003, Molecular genetics and metabolism.

Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations

D. Applegarth, J. Toone, 2006, American journal of medical genetics. Part A.

Biochemical and Histologic Pathology in an Infant with Cross-Reacting Material (Negative) Pyruvate Carboxylase Deficiency

G. Pirie, M. Norman, J. Dimmick, 1986, Pediatric Research.

The response of four lotic macroinvertebrate taxa to burial by sediments

Patrick D. Armitage, Paul J. Wood, Malcolm T. Greenwood, 2005 .

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N‐acetylglucosaminyl‐oligosaccharides in amniotic fluid with high‐performance liquid chromatography

T. Warner, D. Applegarth, J. Toone, 1986, Prenatal diagnosis.

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

M. Coulter-Mackie, G. Rumsby, D. Applegarth, 2001, Molecular genetics and metabolism.

The Differential Diagnosis of Adult Onset Metachromatic Leukodystrophy and Early Onset Familial Alzheimer Disease in an Alzheimer Clinic Population

B. L. Beattie, H. Tuokko, A. Sadovnick, 1993, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

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

L. Gagnier, M. Coulter-Mackie, D. Applegarth, 1998, Clinical biochemistry.

Murine alpha-L-iduronidase: cDNA isolation and expression.

M. Hayden, H. McDonald, H. Zhang, 1994, Genomics.

Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

D. Applegarth, J. Toone, RT*§; and R. Brian Lowry, 2000, Pediatrics.

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.

R. Steiner, D. Sweetser, D. Applegarth, 1996, The Journal of pediatrics.

Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.

D. Applegarth, J. Toone, J. Toone, 2001, Molecular genetics and metabolism.

Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update

D. Applegarth, J. Toone, J. Toone, 2004, Journal of Inherited Metabolic Disease.