#Dj kiran morena series#
Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. Hatch, J., Coman, D., Clayton, P., Mills, P., Calvert, S., Webster, R. Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review doi: 10.1007/8904_2016_13ĭMP1-CDG (CDG1e) with significant gastrointestinal manifestations phenotype and genotype expansionīursle, Carolyn, Brown, Dominique, Cardinal, John, Connor, Frances, Calvert, Sophie and Coman, David (2017).ĭMP1-CDG (CDG1e) with significant gastrointestinal manifestations phenotype and genotype expansion. 105-109) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. doi: 10.1002/jimd.12371ĬOXPD9 an evolving multisystem disease congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritisīursle, Carolyn, Narendra, Anna, Chuk, Raymond, Cardinal, John, Justo, Rob, Lewis, Bruce and Coman, David (2017).ĬOXPD9 an evolving multisystem disease congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis. Journal of Inherited Metabolic Disease, 44 (4), 903-915. New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. L., Grunewald, Stephanie, Belaramani, Kiran, Hall, Madeleine, van der Haak, Natalie, Devanapalli, Beena, Tolun, Adviye Ayper, Wilson, Callum and Bhattacharya, Kaustuv (2021).
Ryder, Bryony, Inbar-Feigenberg, Michal, Glamuzina, Emma, Halligan, Rebecca, Vara, Roshni, Elliot, Aoife, Coman, David, Minto, Tahlee, Lewis, Katherine, Schiff, Manuel, Vijay, Suresh, Akroyd, Rhonda, Thompson, Sue, MacDonald, Anita, Woodward, Abigail J. Journal Article: New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches American Journal of Medical Genetics, Part A, 185 (8), 2445-2454. K., Marcinkute, Ruta, Brewer, Carole, Coman, David, Hobson, Emma, Johnson, Diana, Lynch, Sally Ann, Saggar, Anand, Searle, Claire, Scurr, Ingrid, Turnpenny, Peter D., Vasudevan, Pradeep and Tatton-Brown, Katrina (2021).ĭelineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Journal Article: Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant (2021).Īn anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T). Yeo, A.J., Subramanian, G.N., Chong, K.L., Gatei, M., Parton, R.G., Coman, D. Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56NKG2ACells, and Yet Display Increased Degranulation and Higher Perforin Content.Journal Article: An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T) Manis, Emanuela Marcenaro, Alessandro Moretta, Silvia Parolini, Luigi D. Prockop, Ismail Reisli, Jian Yi Soh, Raz Somech, Troy R. Massaad, Isabelle Meyts, Megan Morsheimer, Bénédicte Neven, Sung-Yun Pai, Nima Parvaneh, Alessandro Plebani, Susan E.
Kuijpers, Bee Wah Lee, Vassilios Lougaris, Michel J. Holland, Chiung Hui Huang, Maria Kanariou, Alejandra King, Blanka Kaplan, Anastasiya Kleva, Taco W. Chatila, Janet Chou, Vanessa Daza-Cajigal, Lisa M.Ott de Bruin, Maite Teresa de la Morena, Gigliola Di Matteo, Andrea Finocchi, Raif S. Cowan, Jacob Bleesing, Claire Booth, David Buchbinder, Siobhan O. Kerry Dobbs, Giovanna Tabellini, Enrica Calzoni, Ornella Patrizi, Paula Martinez, Silvia Giliani, Daniele Moratto, Waleed Al-Herz, Caterina Cancrini, Morton J. Corrigendum: Natural killer cells from patients with recombinase-activating gene and non-homologous end joining gene defects comprise a higher frequency of CD56bright NKG2A+++ cells, and yet display increased degranulation and higher perforin content doi: 10.3389/fimmu.2017.00798
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