Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

Autor: M. Downing, G. T. N. Besley, M Cortina-Borja, J Leonard, J Oerton, M Henderson, Carol Dezateux, A Green, R N Dalton, Javaria M Khalid, Brage S. Andresen

Publikováno v: Khalid, J M, Oerton, J, Cortina-Borja, M, Andresen, B S, Besley, G, Dalton, R N, Downing, M, Green, A, Henderson, M, Leonard, J, Dezateux, C & UK Collaborative Study of Newborn Screening for MCADD 2008, ' Ethnicity of children with homozygous c.985A >G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants ', Journal of Medical Screening, vol. 15, no. 3, pp. 112-7 . https://doi.org/10.1258/jms.2008.008043

Objectives It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdecf89e46160c1be955eb7127f531cc
https://doi.org/10.1258/jms.2008.008043

Juvenile Sandhoff disease-Nine new cases and a review of the literature

Autor: C. D. Ferrie, James E. Wraith, Alan Cooper, P. C. Corry, Christian J. Hendriksz, G. T. N. Besley

Publikováno v: Journal of Inherited Metabolic Disease. 27:241-249

Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4130d7c1e4aa43ce4b791377db172fec
https://doi.org/10.1023/b:boli.0000028777.38551.5a

NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Autor: G. T. N. Besley, Rodney J. Pollitt, Linda De Meirleir, Ivo Barić, Ingrid Tein, Carlo Dionisi-Vici, Ljerka Cvitanovic-Sojat, Anne Marie Lamhonwah, P. Divry, Simon E. Olpin, Miljenka Maradin, Russell Onizuka, Christine Vianey-Saban, Nathalie Guffon, Ksenija Fumić

Publikováno v: American Journal of Medical Genetics. 111:271-284

Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c779178e34bb52a93fd812f4be624499
https://doi.org/10.1002/ajmg.10585

Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT): Cloning of the Human SCOT Gene, Tertiary Structural Modeling of the Human SCOT Monomer, and Characterization of Three Pathogenic Mutations

Autor: Haruki Nakamura, Ronald J.A. Wanders, Naomi Kondo, Sacha Kassovska-Bratinova, Grant A. Mitchell, G. T. N. Besley, Kenji E. Orii, Toshiyuki Fukao, K. E. Niezen-Koning, James E. Wraith, Gerard T. Berry, Xiang-Qian Song, Michael J. Palmieri

Publikováno v: Genomics, 68(2), 144-151. Academic Press Inc.
GENOMICS, 68(2), 144-151. ACADEMIC PRESS INC ELSEVIER SCIENCE

The activity of succinyl-CoA:3-ketoacid CoA transferase (SCOT; locus symbol OXCT; EC 2.8.3.5) is the main determinant of the ketolytic capacity of tissues. Hereditary SCOT deficiency causes episodic ketoacidosis. Here we describe the human SCOT gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34c8ccc50e57e3a2dd4e66723d97046f
https://doi.org/10.1006/geno.2000.6282

Genomic structure and identification of 11 novel mutations of thePEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Autor: Nobuyuki Shimozawa, Takashi Osumi, Hugo W. Moser, Yukio Fujiki, Tadao Orii, Atsushi Imamura, Yasuyuki Suzuki, Naomi Kondo, Ronald J.A. Wanders, Zhongyi Zhang, Barbara C. Paton, Peter G. Barth, Seiji Fukuda, Toshiro Tsukamoto, G. T. N. Besley

Publikováno v: Human mutation, 13(6), 487-496. Wiley-Liss Inc.

The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belongin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ebf602bb7508e74b4c28754a3849826
https://doi.org/10.1002/(sici)1098-1004(1999)13:6<487::aid-humu9>3.0.co