Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alvaro H. Serrano Russi"'
Autor:
Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan
Publikováno v:
J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3
https://doi.org/10.1002/jimd.12290
https://doi.org/10.1002/jimd.12290
Autor:
Gen Nishimura, Tito Onyekweli, David A. Parry, Bernardo Blanco-Sánchez, Dawn L. Earl, Ganka Douglas, Clare V. Logan, Carlos Ferreira, Bobby G. Ng, Jeremy Wegner, Marte Gjøl Haug, Zöe Powis, Benjamin D. Solomon, Megan T. Cho, Ellen Macnamara, Lynne A. Wolfe, Ann Nordgren, Anna Hammarsjö, Melissa Gabriel, Zhi-Jie Xia, Angela L. Duker, Fulya Taylan, Kelly Radtke, Mariya Kozenko, Daniel R. Carvalho, Prashant Sharma, Hudson H. Freeze, Monte Westerfield, Kazuhiro Aoki, Michael B. Bober, Luis Rohena, Alvaro H Serrano Russi, Jennifer B. Phillips, Coleman T. Turgeon, Aurélie Clément, Giedre Grigelioniene, Tara E. Weixel, John A. Phillips, Rizwan Hamid, May Christine V. Malicdan, David H. Adams, George E. Tiller, Mariska Davids, Cynthia J. Tifft, Kimiyo Raymond, Andrew P. Jackson, Emma Tham, Hanne B Hove, Lauren Brick, Jakob Ek, Heiko Bratke, William G. Wilson, Michael Tiemeyer, William A. Gahl
Publikováno v:
2018, ' A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation ', American Journal of Human Genetics, vol. 103, no. 4, pp. 553-567 . https://doi.org/10.1016/j.ajhg.2018.09.003
The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). We describe fourteen individuals with Saul-Wilson syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d721b72718fd3c2ac578bb583e21db4b
https://doi.org/10.1016/j.ajhg.2018.09.003
https://doi.org/10.1016/j.ajhg.2018.09.003
Publikováno v:
Clinical Chemistry. 64:611-613
A previously healthy 8-month-old male was referred to the emergency department following 3 days of ataxia, weakness, and sleepiness after ingestion of cow's milk. He presented with mild metabolic acidosis without anion gap and mild ketonuria. Plasma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d34747914d9a0adb648817469191eb2
https://doi.org/10.1373/clinchem.2017.277954
https://doi.org/10.1373/clinchem.2017.277954
Autor:
Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
Publikováno v:
Molecular Genetics and Metabolism. 119:75-82
Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be21d3dd8798aa4118a7a4fd6b6818
https://doi.org/10.1016/j.ymgme.2016.07.002
https://doi.org/10.1016/j.ymgme.2016.07.002
Autor:
William G. Wilson, Marte Gjøl Haug, Lynne A. Wolfe, Melissa Gabriel, Gen Nishimura, Seth I. Berger, William A. Gahl, Melissa A. Merideth, Heiko Bratke, Zhi-Jie Xia, John A. Phillips, Luis Rohena, Emma Tham, Carlos Ferreira, Giedre Grigelioniene, Daniel R. Carvalho, Michael B. Bober, Andrea Merker, Angela L. Duker, Mariya Kozenko, Hudson H. Freeze, Dawn L. Earl, Bobby G. Ng, George E. Tiller, Wadih M. Zein, Andrew P. Jackson, Alvaro H Serrano Russi, Rizwan Hamid, Laryssa A. Huryn, Hanne B Hove, Lauren Brick
Publikováno v:
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics
Ferreira, C R, Zein, W M, Huryn, L A, Merker, A, Berger, S I, Wilson, W G, Tiller, G E, Wolfe, L A, Merideth, M, Carvalho, D R, Duker, A L, Bratke, H, Haug, M G, Rohena, L, Hove, H B, Xia, Z-J, Ng, B G, Freeze, H H, Gabriel, M, Russi, A H S, Brick, L, Kozenko, M, Earl, D L, Tham, E, Nishimura, G, Phillips, J A, Gahl, W A, Hamid, R, Jackson, A, Grigelioniene, G & Bober, M B 2020, ' Defining the clinical phenotype of Saul-Wilson syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0737-1
Genetics in medicine : official journal of the American College of Medical Genetics
Ferreira, C R, Zein, W M, Huryn, L A, Merker, A, Berger, S I, Wilson, W G, Tiller, G E, Wolfe, L A, Merideth, M, Carvalho, D R, Duker, A L, Bratke, H, Haug, M G, Rohena, L, Hove, H B, Xia, Z-J, Ng, B G, Freeze, H H, Gabriel, M, Russi, A H S, Brick, L, Kozenko, M, Earl, D L, Tham, E, Nishimura, G, Phillips, J A, Gahl, W A, Hamid, R, Jackson, A, Grigelioniene, G & Bober, M B 2020, ' Defining the clinical phenotype of Saul-Wilson syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0737-1
Purpose: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease rem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f99d535386ed647c12cd30405a68c37