المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.

المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831

مصطلحات موضوعية: Pediatrics, Pediatrik, Neurology, Neurologi, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine

URL الوصول: https://gup.ub.gu.se/publication/316437

المؤلفون: Davies, V. J., Powell, K. A., White, K. E., Yip, W., Hogan, V., Hollins, A. J., Davies, J. R., Piechota, M., Brownstein, D. G., Moat, S. J., Nichols, P. P., Wride, M. A., Boulton, M. E., Votruba, M.

المصدر: Brain ; volume 131, issue 2, page 368-380 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awm333
http://academic.oup.com/brain/article-pdf/131/2/368/1140231/awm333.pdf

المؤلفون: Keller R., Chrastina P., Pavlikova M., Gouveia S., Ribes A., Kolker S., Blom H. J., Baumgartner M. R., Bartl J., Dionisi-Vici C., Gleich F., Morris A. A., Kozich V., Huemer M., Baric I., Ben-Omran T., Blasco-Alonso J., Bueno Delgado M. A., Carducci C., Cassanello M., Cerone R., Couce M. L., Crushell E., Delgado Pecellin C., Dulin E., Espada M., Ferino G., Fingerhut R., Garcia Jimenez I., Gonzalez Gallego I., Gonzalez-Irazabal Y., Gramer G., Juan Fita M. J., Karg E., Klein J., Konstantopoulou V., la Marca G., Leao Teles E., Leuzzi V., Lilliu F., Lopez R. M., Lund A. M., Mayne P., Meavilla S., Moat S. J., Okun J. G., Pasquini E., Pedron-Giner C. C., Racz G. Z., Ruiz Gomez M. A., Vilarinho L., Yahyaoui R., Zerjav Tansek M., Zetterstrom R. H., Zeyda M.

المساهمون: Keller, R., Chrastina, P., Pavlikova, M., Gouveia, S., Ribes, A., Kolker, S., Blom, H. J., Baumgartner, M. R., Bartl, J., Dionisi-Vici, C., Gleich, F., Morris, A. A., Kozich, V., Huemer, M., Baric, I., Ben-Omran, T., Blasco-Alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., Gonzalez-Irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., la Marca, G., Leao Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-Giner, C. C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterstrom, R. H., Zeyda, M.

مصطلحات موضوعية: Acetylcarnitine, Amino Acid Metabolism, Inborn Error, Carnitine, Female, Glycine N-Methyltransferase, Homocysteine, Homocystinuria, Human, Infant, Newborn, Male, Methionine, Methylenetetrahydrofolate Reductase (NADPH2), Methylmalonic Acid, Muscle Spasticity, Neonatal Screening, Phenylalanine, Psychotic Disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/30740731; info:eu-repo/semantics/altIdentifier/wos/WOS:000458244600013; volume:42; issue:1; firstpage:128; lastpage:139; numberofpages:12; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1497265; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061250106

الاتاحة: http://hdl.handle.net/11573/1497265
https://doi.org/10.1002/jimd.12034

المؤلفون: Pollard, P. J., Brière, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., Hargreaves, I. P., Heales, S. J., Chung, Y. J., Griffiths, J. R., Dalgleish, A., McGrath, J. A., Gleeson, M. J., Hodgson, S. V., Poulsom, R., Rustin, P., Tomlinson, I. P.M.

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/ddi227v1; http://dx.doi.org/10.1093/hmg/ddi227

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/ddi227v1
https://doi.org/10.1093/hmg/ddi227

المؤلفون: Moat, S J, Hill, M H, McDowell, I F W, Pullin, C H, Ashfield-Watt, P A L, Clark, Z E, Whiting, J M, Newcombe, R G, Lewis, M J, Powers, H J

المصدر: European Journal of Clinical Nutrition ; volume 57, issue 3, page 483-489 ; ISSN 0954-3007 1476-5640

الاتاحة: http://dx.doi.org/10.1038/sj.ejcn.1601554
https://www.nature.com/articles/1601554.pdf
https://www.nature.com/articles/1601554

المؤلفون: Ashfield-Watt, P A L, Whiting, J M, Clark, Z E, Moat, S J, Newcombe, R G, Burr, M L, McDowell, I F W

المصدر: European Journal of Clinical Nutrition ; volume 57, issue 2, page 316-323 ; ISSN 0954-3007 1476-5640

الاتاحة: http://dx.doi.org/10.1038/sj.ejcn.1601545
https://www.nature.com/articles/1601545.pdf
https://www.nature.com/articles/1601545

المؤلفون: Moat, S J, Bonham, J R, Tanner, M S, Allen, J C, Powers, H J

المصدر: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine ; volume 36, issue 3, page 372-379 ; ISSN 0004-5632 1758-1001

الاتاحة: https://doi.org/10.1177/000456329903600311
https://journals.sagepub.com/doi/pdf/10.1177/000456329903600311

المؤلفون: Keller, R., Chrastina, P., Pavlíková, M., Gouveia, S., Ribes, A., Kölker, S., Blom, H. J., Baumgartner, M. R., Bártl, J., Dionisi Vici, C., Gleich, F., Morris, A. A., Kožich, V., Huemer, M., Barić, I., Ben-omran, T., Blasco-alonso, J., Bueno Delgado, M. A., Carducci, C., Cassanello, M., Cerone, R., Couce, M. L., Crushell, E., Delgado Pecellin, C., Dulin, E., Espada, M., Ferino, G., Fingerhut, R., Garcia Jimenez, I., Gonzalez Gallego, I., González-irazabal, Y., Gramer, G., Juan Fita, M. J., Karg, E., Klein, J., Konstantopoulou, V., La Marca, G., Leão Teles, E., Leuzzi, V., Lilliu, F., Lopez, R. M., Lund, A. M., Mayne, P., Meavilla, S., Moat, S. J., Okun, J. G., Pasquini, E., Pedron-giner, C., Racz, G. Z., Ruiz Gomez, M. A., Vilarinho, L., Yahyaoui, R., Zerjav Tansek, M., Zetterström, R. H., Zeyda, M.

المصدر: Keller , R , Chrastina , P , Pavlíková , M , Gouveia , S , Ribes , A , Kölker , S , Blom , H J , Baumgartner , M R , Bártl , J , Dionisi Vici , C , Gleich , F , Morris , A A , Kožich , V , Huemer , M , Barić , I , Ben-omran , T , Blasco-alonso , J , Bueno Delgado , M A , Carducci , C , Cassanello , M , Cerone , R , Couce , M L , Crushell , E , ....

الاتاحة: https://research.manchester.ac.uk/en/publications/fc47ec64-a39f-4fd3-9d72-3e7f39166043
https://doi.org/10.1007/s10545-018-0213-0

المؤلفون: Evans, Carol, Gregory, John Welbourn, Barton, J., Bidder, C., Gibbs, J., Pryce, R., Al-Muzaffar, I., Ludgate, M., Warner, J., John, R., Moat, S. J.

مصطلحات موضوعية: R Medicine (General)

Relation: Evans, Carol, Gregory, John Welbourn https://orca.cardiff.ac.uk/view/cardiffauthors/A031775T.html orcid:0000-0001-5189-3812 orcid:0000-0001-5189-3812, Barton, J., Bidder, C., Gibbs, J., Pryce, R., Al-Muzaffar, I., Ludgate, M., Warner, J., John, R. and Moat, S. J. 2011. Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series. Annals of Clinical Biochemistry 48 (4) , pp. 386-390. 10.1258/acb.2011.011007 https://doi.org/10.1258/acb.2011.011007

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/29681/
https://doi.org/10.1258/acb.2011.011007

المؤلفون: Moat, S. J., Madhavan, A., Taylor, S. Y., Payne, N., Allen, R. H., Stabler, S. P., Goodfellow, J., McDowell, I. F. W., Lewis, M. J., Lang, D.

المصدر: European Journal of Clinical Investigation ; volume 36, issue 12, page 850-859 ; ISSN 0014-2972 1365-2362

الاتاحة: http://dx.doi.org/10.1111/j.1365-2362.2006.01739.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2362.2006.01739.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2362.2006.01739.x

المؤلفون: McKee, M., Moat, S. J, McDowell, I.

المصدر: JRSM ; volume 97, issue 10, page 459-460 ; ISSN 0141-0768

الاتاحة: http://dx.doi.org/10.1258/jrsm.97.10.459

المؤلفون: Pullin, C. H., Bonham, J. R., McDowell, I. F. W., Lee, P. J., Powers, H. J., Wilson, J. F., Lewis, M. J., Moat, S. J.

المصدر: Journal of Inherited Metabolic Disease ; volume 25, issue 2, page 107-118 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1023/a:1015672625913
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1015672625913
https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1015672625913

المؤلفون: Moat, S. J., Bonham, J. R., Allen, J. C., Powers, H. J., McDowell, I. F. W.

المصدر: Journal of Inherited Metabolic Disease ; volume 22, issue 3, page 243-246 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1023/a:1005565518228
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1005565518228
https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1005565518228

المؤلفون: Powers, Hilary J, Moat, Stuart J, Powers, H J, Moat, S J

المصدر: Current Opinion in Clinical Nutrition & Metabolic Care; Sep2000, Vol. 3 Issue 5, p391-397, 7p

المؤلفون: Ashfield-Watt, P. A., Moat, S. J., Doshi, S. N., McDowell, I. F.

المصدر: Biomedicine and Pharmacotherapy; 2001, Vol. 55 Issue: 8 p425-433, 9p

المؤلفون: Gale, C. R., Ashurst, H., Phillips, N. J., Moat, S. J., Bonham, J. R., Martyn, C. N.

المصدر: Atherosclerosis; 2001, Vol. 154 Issue: 1 p141-146, 6p

المؤلفون: Ashfield-Watt, P. A. L., Moat, S. J., Newcombe, R. G., Mcdowell, I. F. W., Mcpartlin, J., Helene McNulty, Quinlivan, E., Ward, M., Scott, J., Mccaddon, A., Hudson, P., Ellis, D., Hill, D., Lloyd, A.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::53d53c1763d9e3e183a256a85a066f92
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037072093&partnerID=MN8TOARS

المؤلفون: Ashfield-Watt, P A L (AUTHOR), Moat, S J (AUTHOR), Newcombe, R G (AUTHOR), McDowell, I F W (AUTHOR)

المصدر: Lancet. 7/13/2002, Vol. 360 Issue 9327, p171-172. 2p.

مصطلحات موضوعية: *RESEARCH, CLINICAL trials, COMPARATIVE studies, DIET, FOLIC acid, RESEARCH methodology, MEDICAL cooperation, OXIDOREDUCTASES, VITAMIN B12, HOMOCYSTEINE, EVALUATION research, RANDOMIZED controlled trials, GENOTYPES