Søgeresultater - Edmondson, Andrew

Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation af Johnsen, Christin, Edmondson, Andrew C.

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Overgrowth Syndromes af Edmondson, Andrew C., Kalish, Jennifer M.

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Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency af Edmondson, Andrew C., Salant, Jennifer, Ierardi-Curto, Lynne A., Ficicioglu, Can

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Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency af Edmondson, Andrew C., Salant, Jennifer, Ierardi-Curto, Lynne A., Ficicioglu, Can

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A Gaussian copula approach for the analysis of secondary phenotypes in case–control genetic association studies af He, Jing, Li, Hongzhe, Edmondson, Andrew C., Rader, Daniel J., Li, Mingyao

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Gene-based interaction analysis by incorporating external linkage disequilibrium information af He, Jing, Wang, Kai, Edmondson, Andrew C, Rader, Daniel J, Li, Chun, Li, Mingyao

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A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants af Geiculescu, Irina, Dranove, Jason, Cosper, Graham, Edmondson, Andrew C., Morava‐Kozicz, Eva, Carter, Lauren B.

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ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis af Ganetzky, Rebecca D., Bloom, Kaitlyn, Ahrens-Nicklas, Rebecca, Edmondson, Andrew, Deardorff, Matthew A., Bennett, Michael J., Ficicioglu, Can

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X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder af Terzic, Barbara, Cui, Yue, Edmondson, Andrew C., Tang, Sheng, Sarmiento, Nicolas, Zaitseva, Daria, Marsh, Eric D., Coulter, Douglas A., Zhou, Zhaolan

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Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study af Witters, Peter, Edmondson, Andrew C., Lam, Christina, Johnsen, Christin, Patterson, Marc C., Raymond, Kimiyo M., He, Miao, Freeze, Hudson H., Morava, Eva

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Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ioniz... af Chen, Jie, Li, Xueli, Edmondson, Andrew, Meyers, Gail Ditewig, Izumi, Kosuke, Ackermann, Amanda M., Morava, Eva, Ficicioglu, Can, Bennett, Michael J., He, Miao

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The NLRP3 Inflammasome Mediates Inflammation Produced by Bladder Outlet Obstruction af Hughes, Francis M., Hill, Hayden M., Wood, Case M., Edmondson, Andrew T., Dumas, Aliya, Foo, Wen-Chi, Oelsen, James M., Rac, Goran, Purves, J. Todd

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A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation af Francisco, Rita, Brasil, Sandra, Pascoal, Carlota, Edmondson, Andrew C., Jaeken, Jaak, Videira, Paula A., de Freitas, Cláudia, Ferreira, Vanessa dos Reis, Marques-da-Silva, Dorinda

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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo... af Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A., Lam, Christina, Edmondson, Andrew C., Schwartz, Ida Vanessa Doederlein, Morava, Eva

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A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis af Brown, Robert J., Edmondson, Andrew C., Griffon, Nathalie, Hill, Theophelus B., Fuki, Ilia V., Badellino, Karen O., Li, Mingyao, Wolfe, Megan L., Reilly, Muredach P., Rader, Daniel J.

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The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations af Jensen, Majken K., Rimm, Eric B., Mukamal, Kenneth J., Edmondson, Andrew C., Rader, Daniel J., Vogel, Ulla, Tjønneland, Anne, Sørensen, Thorkild I.A., Schmidt, Erik B., Overvad, Kim

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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG af Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva

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Mining the LIPG Allelic Spectrum Reveals the Contribution of Rare and Common Regulatory Variants to HDL Cholesterol af Khetarpal, Sumeet A., Edmondson, Andrew C., Raghavan, Avanthi, Neeli, Hemanth, Jin, Weijun, Badellino, Karen O., Demissie, Serkalem, Manning, Alisa K., DerOhannessian, Stephanie L., Wolfe, Megan L., Cupples, L. Adrienne, Li, Mingyao, Kathiresan, Sekar, Rader, Daniel J.

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Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation af Wang, Kai, Edmondson, Andrew C., Li, Mingyao, Gao, Fan, Qasim, Atif N., Devaney, Joseph M., Burnett, Mary Susan, Waterworth, Dawn M., Mooser, Vincent, Grant, Struan F. A., Epstein, Stephen E., Reilly, Muredach P., Hakonarson, Hakon, Rader, Daniel J.

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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania af Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can

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