المؤلفون: Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)

مصطلحات موضوعية: Malate dehydrogenase, MDH2, Mitochondrial malate dehydrogenase, TCA cycle, Epileptic encephalopathy, Leigh syndrome, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200091X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/0c442fea3131425d94111374d304a8a9

المؤلفون: Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu

المصدر: International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)

مصطلحات موضوعية: X-linked adrenoleukodystrophy, X-ALD, C26:0, ABCD1, newborn screening, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/8/2/24; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/018239cea8904a618109a82df3f1a1e3

المؤلفون: Colleen C. Muraresku, Elizabeth M. McCormick, Lydia Rockart, T. Blaine Crowley, Stephanie Asher, Amanda Back, Sarah M. Baldino, Emma Bedoukian, Allison D. Britt, Natalie Burrill, Cara Cacioppo, Dana Farengo Clark, Mary Egan Clark, Laura Conway, Laynie Dratch, Holly A. Dubbs, Nicole M. Engelhardt, Natalie Ginn, Christopher Gray, Tiff Hartman, Evan R. Hathaway, Katherine L. Helbig, Lily Hoffman-Andrews, Stefanie Kasperski, Beth A. Keena, Kierstin N. Keller, Jessica M. Long, Lauren Lulis, Laina Lusk, Daniel E. McGinn, Rebecca Mueller, Rache A. Paul, Lisa Pilchman, Jacquelyn Powers, Sarah E. Raible, Sara Reichert, Alyssa L. Rippert, Angela G. Arnold, Sarah M. Ruggiero, Erica Schindewolf, Katie Rose Sullivan, Shannon Terek, Bekah Wang, McKenzie Wells, Natalia Wisniewski, Renee Wright, Elisabeth McCarty Wood, Stacy Woyciechowski, Kristin Zelley, Kathleen D. Valverde, Donna M. McDonald-McGinn

المصدر: Genes, Vol 15, Iss 7, p 867 (2024)

مصطلحات موضوعية: genetic counselors, research, publications, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/867; https://doaj.org/toc/2073-4425; https://doaj.org/article/59c3bef6795540fa99ac77b828440db8

الاتاحة: https://doi.org/10.3390/genes15070867
https://doaj.org/article/59c3bef6795540fa99ac77b828440db8

المؤلفون: Maura L. Boerio, Nicole M. Engelhardt, Sanmati Cuddapah, Jessica I. Gold, Isabella C. Marin, Amélie Pinard, Dongchuan Guo, Siddharth K. Prakash, Dianna M. Milewicz

المصدر: Circulation: Genomic and Precision Medicine. 15

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5f61bf35f640cbcba602e260854bfb27
https://doi.org/10.1161/circgen.122.003707

المؤلفون: Daniah Albokhari, Bobby G. Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole M. Engelhardt, Rita Barone, Agata Fiumara, Livia Garavelli, Gabriele Trimarchi, Lynne Wolfe, Kimiyo M. Raymond, Eva Morava, Miao He, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson

المصدر: Journal of Inherited Metabolic Disease.

مصطلحات موضوعية: Congenital Disorders of Glycosylation, Glycosylation, Phenotype, Autism Spectrum Disorder, Glucosyltransferases, Genetics, Humans, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18639a4a3ea0e2d23e12a57127d1304d
https://doi.org/10.1002/jimd.12527