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1.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-da-Silva, Dorinda; Pascoal, Carlota; Quelhas, Dulce; Raymond, Kimiyo M; Rymen, Daisy; Seroczynska, Malgorzata; Serrano, Mercedes; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Frederic; Vals, Mari-Anne; Videira, Paula; Voermans, Nicol; Witters, Peter; Morava, Eva.

J Inherit Metab Dis; 44(1): 148-163, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32681750

2.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena-Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Funke, Simone; Gardeitchik, Thatjana; Gert, Matthijs; Girad, Muriel; Giros, Marisa; Grünewald, Stephanie; Hernández-Caselles, Trinidad; Honzik, Tomas; Hutter, Marlen; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-de-Silva, Dorinda; Martinez, Antonio F; Moravej, Hossein; Õunap, Katrin; Pascoal, Carlota; Pascreau, Tiffany; Patterson, Marc; Quelhas, Dulce; Raymond, Kimiyo; Sarkhail, Peymaneh; Schiff, Manuel; Seroczynska, Malgorzata; Serrano, Mercedes; Seta, Nathalie; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Federic; Vals, Mari-Anne.

J Inherit Metab Dis; 42(1): 5-28, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30740725

3.

The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.

Wong, Kira M; Langlais, Kristofor; Tobias, Geoffrey S; Fletcher-Hoppe, Colette; Krasnewich, Donna; Leeds, Hilary S; Rodriguez, Laura Lyman; Godynskiy, Georgy; Schneider, Valerie A; Ramos, Erin M; Sherry, Stephen T.

Nucleic Acids Res; 45(D1): D819-D826, 2017 01 04.

Artículo en Inglés | MEDLINE | ID: mdl-27899644

4.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Klootwijk, Enriko D; Reichold, Markus; Helip-Wooley, Amanda; Tolaymat, Asad; Broeker, Carsten; Robinette, Steven L; Reinders, Joerg; Peindl, Dominika; Renner, Kathrin; Eberhart, Karin; Assmann, Nadine; Oefner, Peter J; Dettmer, Katja; Sterner, Christina; Schroeder, Josef; Zorger, Niels; Witzgall, Ralph; Reinhold, Stephan W; Stanescu, Horia C; Bockenhauer, Detlef; Jaureguiberry, Graciana; Courtneidge, Holly; Hall, Andrew M; Wijeyesekera, Anisha D; Holmes, Elaine; Nicholson, Jeremy K; O'Brien, Kevin; Bernardini, Isa; Krasnewich, Donna M; Arcos-Burgos, Mauricio; Izumi, Yuichiro; Nonoguchi, Hiroshi; Jia, Yuzhi; Reddy, Janardan K; Ilyas, Mohammad; Unwin, Robert J; Gahl, William A; Warth, Richard; Kleta, Robert.

N Engl J Med; 370(2): 129-38, 2014 Jan 09.

Artículo en Inglés | MEDLINE | ID: mdl-24401050

5.

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

Lam, Christina; Ferreira, Carlos; Krasnewich, Donna; Toro, Camilo; Latham, Lea; Zein, Wadih M; Lehky, Tanya; Brewer, Carmen; Baker, Eva H; Thurm, Audrey; Farmer, Cristan A; Rosenzweig, Sergio D; Lyons, Jonathan J; Schreiber, John M; Gropman, Andrea; Lingala, Shilpa; Ghany, Marc G; Solomon, Beth; Macnamara, Ellen; Davids, Mariska; Stratakis, Constantine A; Kimonis, Virginia; Gahl, William A; Wolfe, Lynne.

Genet Med; 19(2): 160-168, 2017 02.

Artículo en Inglés | MEDLINE | ID: mdl-27388694

6.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam, Christina; Golas, Gretchen A; Davids, Mariska; Huizing, Marjan; Kane, Megan S; Krasnewich, Donna M; Malicdan, May Christine V; Adams, David R; Markello, Thomas C; Zein, Wadih M; Gropman, Andrea L; Lodish, Maya B; Stratakis, Constantine A; Maric, Irina; Rosenzweig, Sergio D; Baker, Eva H; Ferreira, Carlos R; Danylchuk, Noelle R; Kahler, Stephen; Garnica, Adolfo D; Bradley Schaefer, G; Boerkoel, Cornelius F; Gahl, William A; Wolfe, Lynne A.

Mol Genet Metab; 115(2-3): 128-140, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-25943031

7.

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Kang, Changsoo; Riazuddin, Sheikh; Mundorff, Jennifer; Krasnewich, Donna; Friedman, Penelope; Mullikin, James C; Drayna, Dennis.

N Engl J Med; 362(8): 677-85, 2010 Feb 25.

Artículo en Inglés | MEDLINE | ID: mdl-20147709

8.

A Participatory Framework for Plain Language Clinical Management Guideline Development.

Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A; Dos Reis Ferreira, Vanessa.

Int J Environ Res Public Health; 19(20)2022 10 19.

Artículo en Inglés | MEDLINE | ID: mdl-36294089

9.

Hereditary inclusion body myopathy: a decade of progress.

Huizing, Marjan; Krasnewich, Donna M.

Biochim Biophys Acta; 1792(9): 881-7, 2009 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-19596068

10.

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Galeano, Belinda; Klootwijk, Riko; Manoli, Irini; Sun, MaoSen; Ciccone, Carla; Darvish, Daniel; Starost, Matthew F; Zerfas, Patricia M; Hoffmann, Victoria J; Hoogstraten-Miller, Shelley; Krasnewich, Donna M; Gahl, William A; Huizing, Marjan.

J Clin Invest; 117(6): 1585-94, 2007 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-17549255

11.

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Klootwijk, Riko D; Savelkoul, Paul J M; Ciccone, Carla; Manoli, Irini; Caplen, Natasha J; Krasnewich, Donna M; Gahl, William A; Huizing, Marjan.

FASEB J; 22(11): 3846-52, 2008 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-18653764

12.

Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.

Agarwal, Beamon; Ahmed, Atif; Rushing, Elisabeth J; Bloom, Miriam; Kadom, Nadja; Vezina, Gilbert; Krasnewich, Donna; Santi, Mariarita.

Hum Pathol; 38(11): 1714-9, 2007 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-17954208

13.

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Sparks, Susan; Rakocevic, Goran; Joe, Galen; Manoli, Irini; Shrader, Joseph; Harris-Love, Michael; Sonies, Barbara; Ciccone, Carla; Dorward, Heidi; Krasnewich, Donna; Huizing, Marjan; Dalakas, Marinos C; Gahl, William A.

BMC Neurol; 7: 3, 2007 Jan 29.

Artículo en Inglés | MEDLINE | ID: mdl-17261181

14.

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.

Wu, Xiaohua; Rush, Jeffrey S; Karaoglu, Denise; Krasnewich, Donna; Lubinsky, Mark S; Waechter, Charles J; Gilmore, Reid; Freeze, Hudson H.

Hum Mutat; 22(2): 144-50, 2003 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-12872255

15.

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

Tayebi, Nahid; Andrews, David Q; Park, Joseph K; Orvisky, Eduard; McReynolds, John; Sidransky, Ellen; Krasnewich, Donna M.

Am J Med Genet; 108(3): 241-6, 2002 Mar 15.

Artículo en Inglés | MEDLINE | ID: mdl-11891694

16.

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.

Dennis, Thomas R; Raptoulis, Gina N; Stalker, Heather J; Boles, Debra; Meck, Jeanne M; Krasnewich, Donna M; Schiffmann, Raphael; Zori, Roberto T.

Am J Med Genet A; 149A(2): 262-5, 2009 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19133694

17.

Human glycosylation disorders.

Krasnewich, Donna.

Cancer Biomark; 14(1): 3-16, 2014 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-24643038

18.

Congenital disorders of glycosylation and intellectual disability.

Wolfe, Lynne A; Krasnewich, Donna.

Dev Disabil Res Rev; 17(3): 211-25, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23798010

19.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun, Meral; Font-Montgomery, Esperanza; Lukose, Linda; Tuchman, Maya; Graf, Jennifer; Bryant, Joy C; Kleta, Robert; Garcia, Angelica; Edwards, Hailey; Piwnica-Worms, Katie; Adams, David; Bernardini, Isa; Fischer, Roxanne E; Krasnewich, Donna; Oden, Neal; Ling, Alex; Quezado, Zenaide; Zak, Colleen; Daryanani, Kailash T; Turkbey, Baris; Choyke, Peter; Guay-Woodford, Lisa M; Gahl, William A.

Clin J Am Soc Nephrol; 5(6): 972-84, 2010 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-20413436

20.

Lysosomal storage disorders in the newborn.

Staretz-Chacham, Orna; Lang, Tess C; LaMarca, Mary E; Krasnewich, Donna; Sidransky, Ellen.

Pediatrics; 123(4): 1191-207, 2009 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-19336380

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