المؤلفون: McHugh, DMS, Cameron, CA, Abdenur, JE, Abdulrahman, M, Adair, O, Al Nuaimi, SA, Ahlman, H, Allen, JJ, Antonozzi, I, Archer, S, Au, S, Auray-Blais, C, Baker, M, Bamforth, F, Beckmann, K, Pino, GB, Berberich, SL, Binard, R, Boemer, F, Bonham, J, Breen, NN, Bryant, SC, Caggana, M, Caldwell, SG, Camilot, M, Campbell, C, Carducci, C, Cariappa, R, Carlisle, C, Caruso, U, Cassanello, M, Castilla, AM, Ramos, DEC, Chakraborty, P, Chandrasekar, R, Ramos, AC, Cheillan, D, Chien, YH, Childs, TA, Chrastina, P, Sica, YC, de Juan, JAC, Colandre, ME, Espinoza, VC, Corso, G, Currier, R, Cyr, D, Czuczy, N, D'Apolito, O, Davis, T, de Sain-Van der Velden, MG, Pecellin, CD, Di Gangi, IM, Di Stefano, CM, Dotsikas, Y, Downing, M, Downs, SM, Dy, B, Dymerski, M, Rueda, I, Elvers, B, Eaton, R, Eckerd, BM, El Mougy, F, Eroh, S, Espada, M, Evans, C, Fawbush, S, Fijolek, KF, Fisher, L, Franzson, L, Frazier, DM, Garcia, LRC, Bermejo, MSGV, Gavrilov, D, Gerace, R, Giordano, G, Irazabal, YG, Greed, LC, Grier, R, Grycki, E, Gu, XF, Gulamali-Majid, F, Hagar, AF, Han, LS, Hannon, WH, Haslip, C, Hassan, FA, He, MA, Hietala, A, Himstedt, L, Hoffman, GL, Hoffman, W, Hoggatt, P, Hopkins, PV, Hougaard, DM, Hughes, K, Hunt, PR, Hwu, WL, Hynes, J, Ibarra-Gonzalez, I, Ingham, CA, Ivanova, M, Jacox, WB, John, C, Johnson, JP, Jonsson, JJ, Karg, E, Kasper, D, Klopper, B, Katakouzinos, D, Khneisser, I, Knoll, D, Kobayashi, H, Koneski, R, Kozich, V, Kouapei, R, Kohlmueller, D, Kremensky, I, la Marca, G, Lavochkin, M, Lee, SY, Lehotay, DC, Lemes, A, Lepage, J, Lesko, B, Lewis, B, Lim, C, Linard, S, Lindner, M, Lloyd-Puryear, MA, Lorey, F, Loukas, YL, Luedtke, J, Maffitt, N, Magee, JF, Manning, A, Manos, S, Marie, S, Hadachi, SM, Marquardt, G, Martin, SJ, Matern, D, Gibson, SKM, Mayne, P, McCallister, TD, McCann, M, McClure, J, McGill, JJ, McKeever, CD, McNeilly, B, Morrissey, MA, Moutsatsou, P, Mulcahy, EA, Nikoloudis, D, Norgaard-Pedersen, B, Oglesbee, D, Oltarzewski, M, Ombrone, D, Ojodu, J, Papakonstantinou, V, Reoyo, SP, Park, HD, Pasquali, M, Pasquini, E, Patel, P, Pass, KA, Peterson, C, Pettersen, RD, Pitt, JJ, Poh, S, Pollak, A, Porter, C, Poston, PA, Price, RW, Queijo, C, Quesada, J, Randell, E, Ranieri, E, Raymond, K, Reddic, JE, Reuben, A, Ricciardi, C, Rinaldo, P, Rivera, JD, Roberts, A, Rocha, H, Roche, G, Greenberg, CR, Mellado, JME, Juan-Fita, MJ, Ruiz, C, Ruoppolo, M, Rutledge, SL, Ryu, EJ, Saban, C, Sahai, I, Garcia-Blanco, MIS, Santiago-Borrero, P, Schenone, A, Schoos, R, Schweitzer, B, Scott, P, Seashore, MR, Seeterlin, MA, Sesser, DE, Sevier, DW, Shone, SM, Sinclair, G, Skrinska, VA, Stanley, EL, Strovel, ET, Jones, ALS, Sunny, S, Takats, Z, Tanyalcin, T, Teofoli, F, Thompson, JR, Tomashitis, K, Domingos, MT, Torres, J, Torres, R, Tortorelli, S, Turi, S, Turner, K, Tzanakos, N, Valiente, AG, Vallance, H, Vela-Amieva, M, Vilarinho, L, von Dobeln, U, Vincent, MF, Vorster, BC, Watson, MS, Webster, D, Weiss, S, Wilcken, B, Wiley, V, Williams, SK, Willis, SA, Woontner, M, Wright, K, Yahyaoui, R, Yamaguchi, S, Yssel, M, Zakowicz, WM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 13(3):230-254

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122005782

المؤلفون: Baynam, GS, Groft, S, van der Westhuizen, FH, Gassman, SD, du Plessis, K, Coles, EP, Selebatso, E, Selebatso, M, Gaobinelwe, B, Selebatso, T, Joel, D, Llera, VA, Vorster, BC, Wuebbels, B, Djoudalbaye, B, Austin, CP, Kumuthini, J, Forman, J, Kaufmann, P, Chipeta, J, Gavhed, D, Larsson, A, Stojiljkovic, M, Nordgren, A, Roldan, EJA, Taruscio, D, Wong-Rieger, D, Nowak, K, Bilkey, GA, Easteal, S, Bowdin, S, Reichardt, JKV, Beltran, S, Kosaki, K, van Karnebeek, CDM, Gong, MC, Zhang, SY, Mehrian-Shai, R, Adams, DR, Puri, RD, Zhang, F, Pachter, N, Muenke, M, Nellaker, C, Gahl, WA, Cederroth, H, Broley, S, Schoonen, M, Boycott, KM, Posada, M

المصدر: Nature genetics. 52(1):21-26

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142800951

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المؤلفون: Baynam G; Rare Care Centre and Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Health and Medicine, Division of Pediatrics, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, University of Notre Dame, Fremantle, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Science and Engineering, Spatial Sciences, Curtin University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; Faculty of Medicine, Notre Dame University, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.; School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. gareth.baynam@health.wa.gov.au., Julkowska D; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Bowdin S; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Hermes A; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., McMaster CR; Department of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., Prichep E; Platform on Shaping the Future of Health and Healthcare, World Economic Forum, New York, NY, USA., Richer É; Institute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada., van der Westhuizen FH; Human Metabolomics, North-West University, Potchefstroom, South Africa., Repetto GM; Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Malherbe H; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa.; Rare Diseases South Africa, Johannesburg, South Africa., Reichardt JKV; Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia., Arbour L; Department of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada., Hudson M; Faculty of Maori and Indigenous Studies, University of Waikato, Hamilton, New Zealand., du Plessis K; Rare Diseases South Africa, Johannesburg, South Africa., Haendel M; Oregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, OR, USA., Wilcox P; Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand., Lynch SA; National Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland.; Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland., Rind S; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Easteal S; National Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia., Estivill X; Quantitative Genomics Medicine Laboratories (qgenomics), Esplugues de Llobregat, Barcelona, Spain., Caron N; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada.; UBC Northern Medical Program and Department of Surgery, Prince George, British Columbia, Canada., Chongo M; UBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada., Thomas Y; Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia., Letinturier MCV; IRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France., Vorster BC; Centre for Human Metabolomics, North-West University, Capetown, South Africa.

المصدر: Nature genetics [Nat Genet] 2024 Feb; Vol. 56 (2), pp. 189-193.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Indigenous Peoples* , Rare Diseases*/diagnosis , Rare Diseases*/genetics, Humans

المؤلفون: Bisschoff M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Dercksen M; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., Schoonen M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa., Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa., van der Watt G; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa., Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa., Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa., Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa., Meldau S; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Vandrovcova J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Wanders RJA; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands., van der Westhuizen FH; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.VanDerWesthuizen@nwu.ac.za.

مؤلفون مشاركون: ICGNMD Consortium

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 14; Vol. 19 (1), pp. 15. Date of Electronic Publication: 2024 Jan 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/drug therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics, Humans ; Child, Preschool ; Mutation/genetics ; South Africa ; Genotype ; Riboflavin/therapeutic use ; Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/metabolism ; Guanine Nucleotide Exchange Factors/therapeutic use ; Death Domain Receptor Signaling Adaptor Proteins/genetics ; Death Domain Receptor Signaling Adaptor Proteins/metabolism

المؤلفون: Dercksen M; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Marli.Dercksen@nwu.ac.za., Conradie EH; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Elne.Conradie@nwu.ac.za., Hendriksz CJ; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. chris@ararecause.org., Malherbe H; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. research@rarediseases.co.za., Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa. Chris.Vorster@nwu.ac.za.

المصدر: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 2023 Dec 04; Vol. 113 (12), pp. 9. Date of Electronic Publication: 2023 Dec 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Electronic Cited Medium: Internet ISSN: 2078-5135 (Electronic) NLM ISO Abbreviation: S Afr Med J Subsets: MEDLINE

مواضيع طبية MeSH: Biological Specimen Banks* , Biomedical Research*, Humans ; Black People ; Rare Diseases/genetics ; Rare Diseases/therapy ; South Africa ; Southern African People

المؤلفون: Munyayi TA; North-West University, Potchefstroom Campus, Potchefstroom 2531, South Africa., Mulder DW; Center for Human Metabolomics, North-West University Potchefstroom Campus, Potchefstroom 2531, South Africa., Conradie EH; Center for Human Metabolomics, North-West University Potchefstroom Campus, Potchefstroom 2531, South Africa., Johannes Smit F; Research Focus Area for Chemical Resource Beneficiation, North-West University, Potchefstroom 2520, South Africa., Vorster BC; Center for Human Metabolomics, North-West University Potchefstroom Campus, Potchefstroom 2531, South Africa.

المصدر: Biosensors [Biosensors (Basel)] 2023 Nov 01; Vol. 13 (11). Date of Electronic Publication: 2023 Nov 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Pub Country of Publication: Switzerland NLM ID: 101609191 Publication Model: Electronic Cited Medium: Internet ISSN: 2079-6374 (Electronic) Linking ISSN: 20796374 NLM ISO Abbreviation: Biosensors (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Galactose* , Metal Nanoparticles*, Humans ; Colorimetry ; Gold ; Galactose Dehydrogenases ; NAD ; Hydrogen Peroxide

المؤلفون: Munyayi TA; Centre For Human Metabolomics, Department of Biochemistry, North West University Potchefstroom, 11 Hoffman Street, Potchefstroom 2531, South Africa., Mulder DW; Centre For Human Metabolomics, Department of Biochemistry, North West University Potchefstroom, 11 Hoffman Street, Potchefstroom 2531, South Africa., Conradie EH; Centre For Human Metabolomics, Department of Biochemistry, North West University Potchefstroom, 11 Hoffman Street, Potchefstroom 2531, South Africa., Vorster BC; Centre For Human Metabolomics, Department of Biochemistry, North West University Potchefstroom, 11 Hoffman Street, Potchefstroom 2531, South Africa.

المصدر: Royal Society open science [R Soc Open Sci] 2023 Oct 11; Vol. 10 (10), pp. 230825. Date of Electronic Publication: 2023 Oct 11 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Royal Society Publishing Country of Publication: England NLM ID: 101647528 Publication Model: eCollection Cited Medium: Print ISSN: 2054-5703 (Print) Linking ISSN: 20545703 NLM ISO Abbreviation: R Soc Open Sci Subsets: PubMed not MEDLINE

المؤلفون: Phiri MM; Department of Pathology and Microbiology, School of Medicine, University of Zambia, Lusaka 10101, Zambia.; Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa., Davoren E; Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa., Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom 2531, South Africa.

المصدر: Molecules (Basel, Switzerland) [Molecules] 2023 Aug 07; Vol. 28 (15). Date of Electronic Publication: 2023 Aug 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

مواضيع طبية MeSH: Liquid-Liquid Extraction*/methods, Gas Chromatography-Mass Spectrometry/methods ; Automation ; Miniaturization ; Solvents

المؤلفون: Munyayi TA; Human Metabolomics, North-West University, Potchefstroom Campus, Potchefstroom 2531, South Africa., Vorster BC; Human Metabolomics, North-West University, Potchefstroom Campus, Potchefstroom 2531, South Africa., Mulder DW; Human Metabolomics, North-West University, Potchefstroom Campus, Potchefstroom 2531, South Africa.

المصدر: Nanomaterials (Basel, Switzerland) [Nanomaterials (Basel)] 2022 Jul 19; Vol. 12 (14). Date of Electronic Publication: 2022 Jul 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101610216 Publication Model: Electronic Cited Medium: Print ISSN: 2079-4991 (Print) Linking ISSN: 20794991 NLM ISO Abbreviation: Nanomaterials (Basel) Subsets: PubMed not MEDLINE