Búsqueda | Portal de Búsqueda de la BVS Colombia

1.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina.

Brain ; 143(1): 55-68, 2020 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-31834374

2.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F.

Hum Mutat ; 41(3): 641-654, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31769566

3.

Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.

Johnson, Tory P; Larman, H Benjamin; Lee, Myoung-Hwa; Whitehead, Stephen S; Kowalak, Jeffrey; Toro, Camilo; Lau, C Christopher; Kim, Juyun; Johnson, Kory R; Reoma, Lauren B; Faustin, Arline; Pardo, Carlos A; Kottapalli, Sanjay; Howard, Jonathan; Monaco, Daniel; Weisfeld-Adams, James; Blackstone, Craig; Galetta, Steven; Snuderl, Matija; Gahl, William A; Kister, Ilya; Nath, Avindra.

Ann Neurol ; 86(5): 695-703, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31461177

4.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kozich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo.

J Inherit Metab Dis ; 40(1): 21-48, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27905001

5.

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Huemer, Martina; Carvalho, Daniel R; Brum, Jaime M; Ünal, Özlem; Coskun, Turgay; Weisfeld-Adams, James D; Schrager, Nina L; Scholl-Bürgi, Sabine; Schlune, Andrea; Donner, Markus G; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Häberle, Johannes; Karall, Daniela.

J Inherit Metab Dis ; 39(3): 331-340, 2016 05.

Artículo en Inglés | MEDLINE | ID: mdl-27038030

6.

Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.

Weisfeld-Adams, James D; Katz Sand, Ilana B; Honce, Justin M; Lublin, Fred D.

Brain ; 138(Pt 3): 517-39, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25636970

7.

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Weisfeld-Adams, James D; McCourt, Emily A; Diaz, George A; Oliver, Scott C.

Mol Genet Metab ; 114(4): 537-46, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25742969

8.

Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945.

Eisenstat, David D; Pollack, Ian F; Demers, Alain; Sapp, Mark V; Lambert, Pascal; Weisfeld-Adams, James D; Burger, Peter C; Gilles, Floyd; Davis, Richard L; Packer, Roger; Boyett, James M; Finlay, Jonathan L.

J Neurooncol ; 121(3): 573-81, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25431150

9.

The Abyss.

Weisfeld-Adams, James D.

N Engl J Med ; 375(8): 713-5, 2016 Aug 25.

Artículo en Inglés | MEDLINE | ID: mdl-27557299

10.

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Weisfeld-Adams, James D; Bender, H Allison; Miley-Åkerstedt, Anna; Frempong, Tamiesha; Schrager, Nina L; Patel, Keyur; Naidich, Thomas P; Stein, Victoria; Spat, Jessica; Towns, Stephanie; Wasserstein, Melissa P; Peter, Inga; Frank, Yitzchak; Diaz, George A.

Mol Genet Metab ; 110(3): 241-7, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23954310

11.

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.

Beard, Lauren; Wymore, Erica; Fenton, Laura; Coughlin, Curtis R; Weisfeld-Adams, James D.

J Inherit Metab Dis ; 40(1): 159-160, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27832417

12.

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.

Chui, Jacqueline V; Weisfeld-Adams, James D; Tepperberg, James; Mehta, Lakshmi.

Am J Med Genet A ; 155A(10): 2508-11, 2011 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-21998864

13.

Rapid resolution of infantile lipemia retinalis following exchange transfusion.

Capitena, Cara E; Wagoner, Holly J; Ruzas, Christopher M; Bennett, Tellen D; Baker, Peter R; Jung, Jennifer L; Weisfeld-Adams, James D.

J Inherit Metab Dis ; 39(6): 889-890, 2016 11.

Artículo en Inglés | MEDLINE | ID: mdl-27518769

14.

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.

Weisfeld-Adams, James D; Morrissey, Mark A; Kirmse, Brian M; Salveson, Bobbie R; Wasserstein, Melissa P; McGuire, Peter J; Sunny, Sherlykutty; Cohen-Pfeffer, Jessica L; Yu, Chunli; Caggana, Michele; Diaz, George A.

Mol Genet Metab ; 99(2): 116-23, 2010 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19836982

15.

Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

Weisfeld-Adams, James D; Baker, Peter R.

J Inherit Metab Dis ; 38(2): 365-6, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25388550

16.

Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.

Weisfeld-Adams, James D; Frank, Yitzchak; Havalad, Vinod; Hojsak, Joanne M; Posada, Roberto; Kaicker, Shipra M; Wistinghausen, Birte.

Childs Nerv Syst ; 25(2): 153-9, 2009 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19023578

17.

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

Bush, Douglas; Sremba, Leighann; Lomax, Kate; Lipsett, Jill; Ketteridge, David; Bratkovic, Drago; Enchautegui-Colon, Yazmin; Weisfeld-Adams, James; Galambos, Csaba; Lummus, Seth; Wartchow, Eric; Weinman, Jason; Liptzin, Deborah R; Baker, Peter.

JIMD Rep ; 43: 71-77, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-29654546

18.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Larson, Austin A; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C; Marom, Ronit; Graham, Brett H; Diaz, George A; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Lane Rutledge, S; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K L; Weisfeld-Adams, James D.

Mitochondrion ; 44: 58-64, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-29307858

19.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Ah Mew, Nicholas; Cnaan, Avital; McCarter, Robert; Choi, Henry; Glass, Penny; Rice, Katie; Scavo, Louis; Gillespie, Catherine W; Diaz, George A; Berry, Gerard T; Wong, Derek; Konczal, Laura; McCandless, Shawn E; Coughlin Ii, Curtis R; Weisfeld-Adams, James D; Ficicioglu, Can; Yudkoff, Mark; Enns, Gregory M; Lichter-Konecki, Uta; Gallagher, Renata; Tuchman, Mendel.

Transl Sci Rare Dis ; 3(3-4): 157-170, 2018 Dec 20.

Artículo en Inglés | MEDLINE | ID: mdl-30613471

20.

Three sisters with Chiari I malformation with and without associated syringomyelia.

Weisfeld-Adams, James D; Carter, Michael R; Likeman, Marcus J; Rankin, Julia.

Pediatr Neurosurg ; 43(6): 533-8, 2007.

Artículo en Inglés | MEDLINE | ID: mdl-17992048

Portal de Búsqueda de la BVS Colombia

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: