Search Results - "Toone, J. R."

Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update by Applegarth, D. A., Toone, J. R.

“…This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge…”
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Incidence of Inborn Errors of Metabolism in British Columbia, 1969-1996 by Applegarth, Derek A, Toone, Jennifer R, Lowry, RT{section}; and R. Brian

“…To determine how many children with specific types of inborn errors of metabolism are born each year in British Columbia, Canada. This population provides a…”
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Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations by Steiner, Robert D., Sweetser, David A., Rohrbaugh, James R., Dowton, S.Bruce, Toone, Jennifer R., Applegarth, Derek A.

“…A 16-year-old boy had intermittent chorea, delirium, and vertical gaze palsy precipitated by febrile illness. Nonketotic hyperglycinemia was confirmed by…”
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Early amniocentesis for biochemical genetic prenatal diagnosis by Toone, JR, Applegarth, DA, Vallance, HD, Wilson, RD

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Prenatal diagnosis of Non‐ketotic hyperglycinaemia by Toone, J. R., Applegarth, D. A., Levy, H. L.

“…Summary Non‐ketotic hyperglycinaemia (NKH) is a devastating neurological disease for which there is no effective therapy. Consequently, most couples with a…”
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Gene Symbol: GLDC. Disease: NKH glycine encephalopathy by Toone, J R, Applegarth, D A, Laliberte, G

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Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin‐2 (IL‐2) stimulated lymphocytes by Vallance, H. D., Toone, J. R., Applegarth, D. A.

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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 by Toone, Jennifer R., Applegarth, Derek A., Coulter-Mackie, Marion B., James, Erick R.

“…A novel splice site mutation (IVS7‐1G→A) in the T‐protein gene (aminomethyltransferase, or AMT) of the glycine cleavage enzyme complex was found in a patient…”
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Laboratory detection of metabolic disease by Applegarth, D A, Dimmick, J E, Toone, J R

“…This article describes the clinical signs, abnormal chemistry, histopathology, and biochemical tests that assist in the diagnosis of many inherited metabolic…”
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Pseudoarylsulfatase-A deficiency in the neurologically impaired patient by Farrell, K, Applegarth, D A, Toone, J R, McLeod, P M, Savage, A V

“…The demonstration of low arylsulfatase-A (ASA) activity in leucocytes or fibroblasts is used often to establish the diagnosis of metachromatic leucodystrophy…”
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Prenatal diagnosis of pyruvate carboxylase deficiency by Robinson, B H, Toone, J R, Benedict, R P, Dimmick, J E, Oei, J, Applegarth, D A

“…Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests…”
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An update on the frequency of mucopolysaccharide syndromes in British Columbia by Lowry, R B, Applegarth, D A, Toone, J R, MacDonald, E, Thunem, N Y

“…We report an update of data for frequency of the Hurler and Hunter syndromes in British Columbia, Canada. An earlier study of the frequency of both Hurler…”
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Isocaloric carbohydrate versus carbohydrate-protein ingestion and cycling time-trial performance by Toone, Rebecca J, Betts, James A

“…This study was designed to compare the effects of energy-matched carbohydrate (CHO) and carbohydrate-protein (CHO-PRO) supplements on cycling time-trial…”
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Prenatal diagnosis of non-ketotic hyperglycinaemia : experience in 50 At-risk pregnancies by TOONE, J. R, APPLEGARTH, D. A, LEVY, H. L

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Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis by Applegarth, Derek A., Toone, Jennifer R.

“…Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS…”
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Growth-hormone responses to consecutive exercise bouts with ingestion of carbohydrate plus protein by Betts, James A, Stokes, Keith A, Toone, Rebecca J, Williams, Clyde

“…Endocrine responses to repeated exercise have barely been investigated, and no data are available regarding the mediating influence of nutrition. On 3…”
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Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH) by TOONE, J. R, APPLEGARTH, D. A

“…The incidence of non-ketotic hyperglycinaemia (NKH), McKusick 23830, in the population of British Columbia, Canada was found to be the same as that reported…”
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The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population by Sadovnick, A D, Tuokko, H, Applegarth, D A, Toone, J R, Hadjistavropoulos, T, Beattie, B L

“…Clinical differentiation between forms of progressive dementia can prove difficult, particularly when relatively rare forms of dementia are involved. Factors…”
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Prenatal diagnosis of non‐ketotic hyperglycinaemia: Experience in 50 at‐risk pregnancies by Toone, J. R., Applegarth, D. A., Levy, H. L.

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Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred by Lowry, R B, Snyder, F F, Wesenberg, R L, Machin, G A, Applegarth, D A, Morgan, K, Carter, R J, Toone, J R, Holmes, T M, Dewar, R D

“…A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding…”
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