Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Jennifer R. Toone"'
Autor:
Hilary Vallance, Qun Lian, Marion B. Coulter-Mackie, Derek A. Applegarth, Paula J. Waters, Jennifer R. Toone
Publikováno v:
Clinical Biochemistry. 41:598-602
Objectives To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1). Design and methods Samples of liver and/or DNA from 81 patients were submitted to our laboratory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a9a7abfb53a6e2e946a0579e78e8ff
https://doi.org/10.1016/j.clinbiochem.2008.01.018
https://doi.org/10.1016/j.clinbiochem.2008.01.018
Autor:
Michael A. Swanson, Suhong Tong, Geralyn Creadon-Swindell, Julia B. Hennermann, Elaine B. Spector, Gert Matthijs, Kendra Bjoraker, Gunter Scharer, Jennifer R. Toone, Derek A. Applegarth, Kristina Williams, Heather Szerlong, Curtis R. Coughlin, Vincent Mahieu, Johan L.K. Van Hove
Publikováno v:
Annals of Neurology
Objective Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fecd6ae3fcc7d1eb0b0ea5d48d7790f
https://pubmed.ncbi.nlm.nih.gov/26969502
https://pubmed.ncbi.nlm.nih.gov/26969502
Publikováno v:
Molecular Genetics and Metabolism. 86:172-178
We describe nine novel mutations and polymorphisms occurring on the major allele of the human alanine:glyoxylate aminotransferase gene in patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff9f2838c30d23f341273645884f9c6
https://doi.org/10.1016/j.ymgme.2005.05.005
https://doi.org/10.1016/j.ymgme.2005.05.005
Autor:
Ada Hamosh, Jennifer R. Toone, Julie Hoover-Fong, J. L. K. Van Hove, S. Shah, Derek A. Applegarth
Publikováno v:
Neurology. 63:1847-1853
Background: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9980b4126f6b100f13cb6e7eb0b5c9fc
https://doi.org/10.1212/01.wnl.0000144270.83080.29
https://doi.org/10.1212/01.wnl.0000144270.83080.29
Autor:
Derek A. Applegarth, Jennifer R. Toone
Publikováno v:
Journal of Inherited Metabolic Disease. 27:417-422
This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge of this disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8fe82e469d7047f3361b2d631c8eac9
https://doi.org/10.1023/b:boli.0000031222.38328.59
https://doi.org/10.1023/b:boli.0000031222.38328.59
Autor:
Derek A. Applegarth, Marion B. Coulter-Mackie, Andrew Tung, Jennifer R. Toone, Howard E. Henderson
Publikováno v:
Molecular Genetics and Metabolism. 78:44-50
We describe a novel missense mutation (A112D) and polymorphism (V326I) in the human AGT gene in two black African patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2d9abb3806b5ae55e02c0f46423bb0
https://doi.org/10.1016/s1096-7192(02)00204-4
https://doi.org/10.1016/s1096-7192(02)00204-4
Autor:
Glenda Hendson, Marion B. Coulter-Mackie, Derek A. Applegarth, André R. Anzarut, Liane Gagnier, Jennifer R. Toone
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 29:159-163
Background:Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages.Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::785150a6632bd49a3eba66aafccc943f
https://doi.org/10.1017/s0317167100120931
https://doi.org/10.1017/s0317167100120931
Publikováno v:
Molecular Genetics and Metabolism. 74:314-321
We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8023a541f896769f1f780e1eaeb437
https://doi.org/10.1006/mgme.2001.3222
https://doi.org/10.1006/mgme.2001.3222
Autor:
Gardner Bemis, Marie Odile Rolland, Jennifer R. Toone, Dwight K. C. Yim, Derek A. Applegarth, Susan H. Black
Publikováno v:
Prenatal Diagnosis. 20:367-370
We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3044fbc25ae71e8be04c5c921ced5bdb
https://doi.org/10.1002/(sici)1097-0223(200005)20:5<367::aid-pd814>3.0.co
https://doi.org/10.1002/(sici)1097-0223(200005)20:5<367::aid-pd814>3.0.co
Autor:
Derek A. Applegarth, Jennifer R. Toone
Publikováno v:
American Journal of Medical Genetics Part A. :186-188
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b63d6db47d9cb65423db294af67a431
https://doi.org/10.1002/ajmg.a.31030
https://doi.org/10.1002/ajmg.a.31030