83 results for Acidosis,+Lactic+-+genetics

83 results for Acidosis,+Lactic+-+genetics

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    Author / Creator:Zhang, Shan ; Reljić, Boris ; Liang, Chao ; Kerouanton, Baptiste ; Francisco, Joel Celio ; Peh, Jih Hou ; Mary, Camille ; Jagannathan, Narendra Suhas ; Olexiouk, Volodimir ; Tang, Claire ; Fidelito, Gio ; Nama, Srikanth ; Cheng, Ruey-Kuang ; Wee, Caroline Lei ; Wang, Loo Chien ; Duek Roggli, Paula ; Sampath, Prabha ; Lane, Lydie ; Petretto, Enrico ; Sobota, Radoslaw M. ; Jesuthasan, Suresh ; Tucker-Kellogg, Lisa ; Reversade, Bruno ; Menschaert, Gerben ; Sun, Lei ; Stroud, David A. ; Ho, Lena
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2020-03, Vol.11 (1), p.1312-1312, Article 1312
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    Author / Creator:Monroe, Glen R. ; van Eerde, Albertien M. ; Tessadori, Federico ; Duran, Karen J. ; Savelberg, Sanne M. C. ; van Alfen, Johanna C. ; Terhal, Paulien A. ; van der Crabben, Saskia N. ; Lichtenbelt, Klaske D. ; Fuchs, Sabine A. ; Gerrits, Johan ; van Roosmalen, Markus J. ; van Gassen, Koen L. ; van Aalderen, Mirjam ; Koot, Bart G. ; Oostendorp, Marlies ; Duran, Marinus ; Visser, Gepke ; de Koning, Tom J. ; Calì, Francesco ; Bosco, Paolo ; Geleijns, Karin ; de Sain-van der Velden, Monique G. M. ; Knoers, Nine V. ; Bakkers, Jeroen ; Verhoeven-Duif, Nanda M. ; van Haaften, Gijs ; Jans, Judith J.
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature communications, 2019-04, Vol.10 (1), p.1477-1477, Article 1477
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    Author / Creator:Benincá, Cristiane ; Zanette, Vanessa ; Brischigliaro, Michele ; Johnson, Mark ; Reyes, Aurelio ; Valle, Daniel Almeida do ; J. Robinson, Alan ; Degiorgi, Andrea ; Yeates, Anna ; Telles, Bruno Augusto ; Prudent, Julien ; Baruffini, Enrico ; S. F. Santos, Mara Lucia ; R. de Souza, Ricardo Lehtonen ; Fernandez-Vizarra, Erika ; J. Whitworth, Alexander ; Zeviani, Massimo
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2021-03, Vol.58 (3), p.155-167
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    Author / Creator:Waterham, Hans R ; Koster, Janet ; van Roermund, Carlo W.T ; Mooyer, Petra A.W ; Wanders, Ronald J.A ; Leonard, James V
    Publisher:Boston, MA: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2007-04, Vol.356 (17), p.1736-1741
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    Author / Creator:Thamrongwaranggoon, Ubonrat ; Kuribayashi, Kanji ; Araki, Hirotaka ; Hino, Yuko ; Koga, Tomoaki ; Seubwai, Wunchana ; Wongkham, Sopit ; Nakao, Mitsuyoshi ; Hino, Shinjiro
    Publisher:England: John Wiley & Sons, Inc
    Journal title:Cancer science, 2023-04, Vol.114 (4), p.1541-1555
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    Author / Creator:Aloulou, Hajer ; Charfi, Fatma ; Charfi, Rim ; Chehida, Amel Ben ; Boudabbous, Hela ; Chabchoub, Imen ; Lebigot, Elise ; Kammoun, Thouraya ; Maaloul, Ines
    Publisher:England: BioMed Central Ltd
    Journal title:BMC pediatrics, 2025-02, Vol.25 (1), p.127-5, Article 127
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    Author / Creator:Ittiwut, Chupong ; Ittiwut, Rungnapa ; Kuptanon, Chulaluck ; Matsuhashi, Tetsuro ; Shimura, Masaru ; Sugiyama, Yohei ; Onuki, Takanori ; Ohtake, Akira ; Murayama, Kei ; Vatanavicharn, Nithiwat ; Dejputtawat, Waralee ; Tantisirivit, Nitchanund ; Kor-anantakul, Phawin ; Kamolvisit, Wuttichart ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2023-12, Vol.13 (1), p.22005-6, Article 22005
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    Author / Creator:Barnes, Emily M. E. ; Xu, Yitao ; Benito, Adrian ; Herendi, Lili ; Siskos, Alexandros P. ; Aboagye, Eric O. ; Nijhuis, Anke ; Keun, Hector C.
    Publisher:London: Nature Publishing Group UK
    Journal title:British journal of cancer, 2020-04, Vol.122 (9), p.1298-1308
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    Author / Creator:Meldau, Surita ; Owen, Elizabeth Patricia ; Khan, Kashief ; Riordan, Gillian Tracy
    Publisher:England: BMJ Publishing Group Ltd and Association of Clinical Pathologists
    Journal title:Journal of clinical pathology, 2022-01, Vol.75 (1), p.34-38
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    Author / Creator:Wei, Xiujuan ; Du, Miaomiao ; Xie, Jie ; Luo, Ting ; Zhou, Yan ; Zhang, Kun ; Li, Jin ; Chen, Deyu ; Xu, Pu ; Jia, Manli ; Zhou, Huaibin ; Fang, Hezhi ; Lyu, Jianxin ; Yang, Yanling
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2020-03, Vol.65 (3), p.231-240
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    Author / Creator:Shalata, Adel ; Saada, Ann ; Mahroum, Mohammed ; Hadid, Yarin ; Furman, Chaya ; Shalata, Zaher Eldin ; Desnick, Robert J ; Lorber, Avraham ; Khoury, Asaad ; Higazi, Adnan ; Shaag, Avraham ; Barash, Varda ; Spiegel, Ronen ; Vlodavsky, Euvgeni ; Rustin, Pierre ; Pietrokovski, Shmuel ; Manov, Irena ; Gieger, Dan ; Tal, Galit ; Salzberg, Adi ; Mandel, Hanna
    Publisher:England: BioMed Central
    Journal title:Human genomics, 2025-02, Vol.19 (1), p.21-18, Article 21
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    Author / Creator:Chen, Julia Ling-Yu ; Merl, Daniel ; Peterson, Christopher W ; Wu, Jianli ; Liu, Patrick Yantyng ; Yin, Hanwei ; Muoio, Deborah M ; Ayer, Don E ; West, Mike ; Chi, Jen-Tsan
    Publisher:United States: Public Library of Science
    Journal title:PLoS genetics, 2010-09, Vol.6 (9), p.e1001093-e1001093
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    Author / Creator:Gaignard, Pauline ; Eyer, Didier ; Lebigot, Elise ; Oliveira, Christophe ; Therond, Patrice ; Boutron, Audrey ; Slama, Abdelhamid
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2017-07, Vol.62 (7), p.729-731
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    Author / Creator:Mustafa, Mohd Fazirul ; Fakurazi, Sharida ; Abdullah, Maizaton Atmadini ; Maniam, Sandra
    Publisher:Switzerland: MDPI
    Journal title:Genes, 2020-02, Vol.11 (2), p.192
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    Author / Creator:Danhauser, Katharina ; Herebian, Diran ; Haack, Tobias B ; Rodenburg, Richard J ; Strom, Tim M ; Meitinger, Thomas ; Klee, Dirk ; Mayatepek, Ertan ; Prokisch, Holger ; Distelmaier, Felix
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.450-454
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    Author / Creator:Gunawardena, Kawmadi ; Praveenan, Somasundaram ; Dissanayake, Vajira H W ; Ratnayake, Pyara
    Publisher:England: BioMed Central Ltd
    Journal title:Journal of medical case reports, 2024-09, Vol.18 (1), p.420-7, Article 420
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    Author / Creator:Hershkovitz, Tova ; Kurolap, Alina ; Gonzaga-Jauregui, Claudia ; Paperna, Tamar ; Mory, Adi ; Wolf, Sarah E ; Overton, John D ; Shuldiner, Alan R ; Saada, Ann ; Mandel, Hanna ; Baris Feldman, Hagit
    Publisher:England: Nature Publishing Group
    Journal title:Journal of human genetics, 2019-06, Vol.64 (6), p.589-595
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    Author / Creator:Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose E. ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett H. ; Haack, Tobias B. ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles M. ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole I. ; Wortmann, Saskia B. ; Taylor, Robert W. ; Mayr, Johannes A. ; Bonnen, Penelope E. ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.905-914
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    Author / Creator:Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa ; Mazurova, Stella ; Hansikova, Hana ; Zahorec, Martin ; Brennerova, Katarina ; Bzduch, Vladimir ; Spiegel, Ronen ; Horovitz, Yoseph ; Mandel, Hanna ; Eminoğlu, Fatma Tuba ; Mayr, Johannes Adalbert ; Koch, Johannes ; Martinelli, Diego ; Bertini, Enrico ; Konstantopoulou, Vassiliki ; Smet, Joél ; Rahman, Shamima ; Broomfield, Alexander ; Stojanović, Vesna ; Dionisi-Vici, Carlo ; van Coster, Rudy ; Morava-Kozicz, Eva ; Sperl, Wolfgang ; Zeman, Jiri ; Honzik, Tomas
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.417-426
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    Author / Creator:Oláhová, Monika ; Haack, Tobias B ; Alston, Charlotte L ; Houghton, Jessica Ac ; He, Langping ; Morris, Andrew Am ; Brown, Garry K ; McFarland, Robert ; Chrzanowska-Lightowlers, Zofia Ma ; Lightowlers, Robert N ; Prokisch, Holger ; Taylor, Robert W
    Publisher:England: Nature Publishing Group
    Journal title:European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.935-939
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