检索结果 - Edmondson, Andrew

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

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

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Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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... 由 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 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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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