Búsqueda | Biblioteca Virtual en Salud

1.

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.

Daas, Falastine; Gupta, Punita; Kiblawi, Fuad.

BMC Pediatr ; 23(1): 644, 2023 12 19.

Artículo en Inglés | MEDLINE | ID: mdl-38114927

2.

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Weinreb, Neal J; Goker-Alpan, Ozlem; Kishnani, Priya S; Longo, Nicola; Burrow, T Andrew; Bernat, John A; Gupta, Punita; Henderson, Nadene; Pedro, Helio; Prada, Carlos E; Vats, Divya; Pathak, Ravi R; Wright, Ekaterina; Ficicioglu, Can.

Mol Genet Metab ; 136(1): 4-21, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35367141

3.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Li, Cindy; Desai, Ankit K; Gupta, Punita; Dempsey, Katherine; Bhambhani, Vikas; Hopkin, Robert J; Ficicioglu, Can; Tanpaiboon, Pranoot; Craigen, William J; Rosenberg, Amy S; Kishnani, Priya S.

Genet Med ; 23(5): 845-855, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33495531

4.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan.

Hum Mutat ; 41(1): 299-315, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31595648

5.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica.

Genet Med ; 21(3): 764-765, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30275510

6.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica.

Genet Med ; 21(4): 867-876, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30190611

7.

Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty.

Garris, Rana; Vasudev, Rahul; Gupta, Punita; Tiyyagura, Satish; Shamoon, Fayez; Bikkina, Mahesh.

J Electrocardiol ; 57: 119-121, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31654968

8.

Orphan drug development.

Pastores, Gregory M; Gupta, Punita.

Pediatr Endocrinol Rev ; 11 Suppl 1: 64-7, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-24380124

9.

Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease.

Ostroff, Matthew; Gupta, Punita; Garcia, Daniel.

J Vasc Access ; : 1129729821999486, 2021 Mar 05.

Artículo en Inglés | MEDLINE | ID: mdl-33673749

10.

A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Gupta, Punita; Shayota, Brian J; Desai, Ankit K; Kiblawi, Fuad; Myridakis, Dorothy; Messina, John; Tah, Peter; Tambini-King, Lorien; Kishnani, Priya S.

Front Immunol ; 11: 1929, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-33013846

11.

Pharmacological treatment of pediatric Gaucher disease.

Gupta, Punita; Pastores, Gregory.

Expert Rev Clin Pharmacol ; 11(12): 1183-1194, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-30444430

12.

Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.

Gupta, Punita; Pastores, Gregory M.

Pediatric Health Med Ther ; 8: 73-81, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29388611

13.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

Kazi, Zoheb B; Desai, Ankit K; Berrier, Kathryn L; Troxler, R Bradley; Wang, Raymond Y; Abdul-Rahman, Omar A; Tanpaiboon, Pranoot; Mendelsohn, Nancy J; Herskovitz, Eli; Kronn, David; Inbar-Feigenberg, Michal; Ward-Melver, Catherine; Polan, Michelle; Gupta, Punita; Rosenberg, Amy S; Kishnani, Priya S.

JCI Insight ; 2(16)2017 Aug 17.

Artículo en Inglés | MEDLINE | ID: mdl-28814660

14.

Association between neurovascular contact on MRI and response to gamma knife radiosurgery in trigeminal neuralgia.

Erbay, Sami H; Bhadelia, Rafeeque A; Riesenburger, Ron; Gupta, Punita; O'Callaghan, Mark; Yun, Eric; Oljeski, Steven.

Neuroradiology ; 48(1): 26-30, 2006 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16237547

15.

Nerve atrophy in severe trigeminal neuralgia: noninvasive confirmation at MR imaging--initial experience.

Erbay, Sami H; Bhadelia, Rafeeque A; O'Callaghan, Mark; Gupta, Punita; Riesenburger, Ron; Krackov, Warren; Polak, Joseph F.

Radiology ; 238(2): 689-92, 2006 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-16436823

16.

The growing teratoma syndrome.

Nimkin, Katherine; Gupta, Punita; McCauley, Roy; Gilchrist, Brian F; Lessin, Marc S.

Pediatr Radiol ; 34(3): 259-62, 2004 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-14551755

17.

The Golden S sign.

Gupta, Punita.

Radiology ; 233(3): 790-1, 2004 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-15564409

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