J R Toone - JoVE Visualize

Showing results (11-20 of 26) with videos related to

Pageof 3

Sort By:

European Journal of Biochemistry|September 1, 1977

Choline kinase and ethanolamine kinase are separate, soluble enzymes in rat liverP J Brophy, P C Choy, J R Toone, et al.

Molecular Genetics and Metabolism|November 16, 2001

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluriaM B Coulter-Mackie, G Rumsby, D A Applegarth, et al.

Molecular Genetics and Metabolism|April 5, 2001

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)J R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Molecular Genetics and Metabolism|June 30, 2000

Biochemical and molecular investigations of patients with nonketotic hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Human Mutation|January 4, 2001

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 hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Journal of Child Neurology|November 26, 1999

Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratioA H Jackson, D A Applegarth, J R Toone, et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 1, 1985

Pseudoarylsulfatase-A deficiency in the neurologically impaired patientK Farrell, D A Applegarth, J R Toone, et al.

Pediatric Pathology|January 1, 1987

Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancyD A Applegarth, J R Toone, R D Wilson, et al.

Journal of the Neurological Sciences|August 1, 1983

Argininosuccinic aciduria. A developmental and biochemical case studyD Margalith, J U Crichton, L Wong, et al.

Prenatal Diagnosis|January 1, 1985

Prenatal diagnosis of pyruvate carboxylase deficiencyB H Robinson, J R Toone, R P Benedict, et al.

Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:

Pageof 3

European Journal of Biochemistry|September 1, 1977

Choline kinase and ethanolamine kinase are separate, soluble enzymes in rat liverP J Brophy, P C Choy, J R Toone, et al.

Molecular Genetics and Metabolism|November 16, 2001

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluriaM B Coulter-Mackie, G Rumsby, D A Applegarth, et al.

Molecular Genetics and Metabolism|April 5, 2001

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)J R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Molecular Genetics and Metabolism|June 30, 2000

Biochemical and molecular investigations of patients with nonketotic hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Human Mutation|January 4, 2001

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 hyperglycinemiaJ R Toone, D A Applegarth, M B Coulter-Mackie, et al.

Journal of Child Neurology|November 26, 1999

Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratioA H Jackson, D A Applegarth, J R Toone, et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 1, 1985

Pseudoarylsulfatase-A deficiency in the neurologically impaired patientK Farrell, D A Applegarth, J R Toone, et al.

Pediatric Pathology|January 1, 1987

Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancyD A Applegarth, J R Toone, R D Wilson, et al.

Journal of the Neurological Sciences|August 1, 1983

Argininosuccinic aciduria. A developmental and biochemical case studyD Margalith, J U Crichton, L Wong, et al.

Prenatal Diagnosis|January 1, 1985

Prenatal diagnosis of pyruvate carboxylase deficiencyB H Robinson, J R Toone, R P Benedict, et al.

Pageof 3