Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Celina Guzman"'
Autor:
Christian Peña-Padilla, Eugenio Zapata-Aldana, Jorge Román Corona-Rivera, Elizabeth Solis-Hernández, Alfredo Corona-Rivera, Christian Zahl, Maja Sukalo, Erick Richmond, Lucina Bobadilla-Morales, Celina Guzman, Martin Zenker
Publikováno v:
American Journal of Medical Genetics Part A. 170:1495-1501
Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to
Autor:
Carolina Jimenez-Rivera, Alfredo Mora, Gabriela Jimenez, Celina Guzman, Víctor Cambronero, Carlos Morales
Publikováno v:
Gastroenterología y Hepatología. 32:274-278
Resumen Antecedentes Costa Rica es conocida por tener un indice de prevalencia relativamente alto de enfermedad de Wilson (EW). En el presente estudio se describe la presentacion clinica y las caracteristicas demograficas de los pacientes diagnostica
Autor:
Martin, Zenker, Julia, Mayerle, Markus M, Lerch, Andreas, Tagariello, Klaus, Zerres, Peter R, Durie, Matthias, Beier, Georg, Hülskamp, Celina, Guzman, Helga, Rehder, Frits A, Beemer, Ben, Hamel, Philippe, Vanlieferinghen, Ruth, Gershoni-Baruch, Marta W, Vieira, Miroslav, Dumic, Ron, Auslender, Vera L, Gil-da-Silva-Lopes, Simone, Steinlicht, Manfred, Rauh, Stavit A, Shalev, Christian, Thiel, Arif B, Ekici, Andreas, Winterpacht, Yong Tae, Kwon, Alexander, Varshavsky, André, Reis
Publikováno v:
Nature Genetics, 37, 1345-50
Nature Genetics, 37, 12, pp. 1345-50
Nature Genetics, 37, 12, pp. 1345-50
Contains fulltext : 48537.pdf (Publisher’s version ) (Closed access) Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing a
Autor:
Jan Maarten Cobben, Nienke E. Verbeek, Markus M. Lerch, Fowzan S. Alkuraya, Manuel Oltra Benavent, Celina Guzman, Nima Rezaei, Abdullah Alrajoudi, Özgür Kirbiyik, Martin Zenker, Charu Deshpande, Carlos A. Venegas-Vega, Prajnya Ranganath, Fouad Ali, Marie-Claude Addor, Erick Richmond, Eva-Lena Stattin, Lynette A. Gillis, Débora Romeo Bertola, David B. Everman, Klaus-Michael Keller, Maja Sukalo, Gesche Düker, Clara D.M. van Karnebeek, Heiko Witt, Zhifeng Liu, Julia Mayerle, Jiad N. Mcheik, Crésio Alves, Bita Bozorgmehr, Stephanie Spranger, Amy Shealy, Ankur Singh, Koumudi Godbole, Ariane Fiedler, Jan Liebelt, Gonul Ogur, Carsten Bergmann
Publikováno v:
HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human mutation, 35(5), 521-531. Wiley-Liss Inc.
Bertola, Debora/0000-0002-4701-6777; Rezaei, Nima/0000-0002-3836-1827; Lerch, Markus M./0000-0002-9643-8263; Richmond, Erick/0000-0001-9946-3686; Mayerle, Julia/0000-0002-3666-6459 WOS: 000334658800003 PubMed: 24599544 Johanson-Blizzard syndrome (JBS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a0afa1a5856c41c1115b1d93d74dc5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=8918
Publikováno v:
American Journal of Gastroenterology. 93:2547-2550
We report two cases of postbiopsy duodenal hematoma and review 14 additional cases. Duodenal hematoma predominantly occurs in children and presents with abdominal pain, vomiting, and pancreatitis. Upper gastrointestinal series, abdominal ultrasound,
Autor:
Alfonso Carranza, Celina Guzman
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 25(3)
WILSON DISEASE: CLINICAL EXPERIENCE AND DIAGNOSTIC CHALLENGES AT THE CHILDREN HOSPITAL OF COSTA RICA
Autor:
Celina Guzman, Carlos Saenz Herrera, Carolina Jimenez-Rivera, Gabriela Jimenez, Alfredo Mora, Carlos Morales
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 41:524-525
Autor:
Andreas Winterpacht, Celina Guzman, Ben C.J. Hamel, Markus M. Lerch, Frits A. Beemer, Christian Thiel, Klaus Zerres, Helga Rehder, Andreas Tagariello, André Reis, Ruth Gershoni-Baruch, Martin Zenker, Peter R. Durie, Miroslav Dumić, Marta W. Vieira, Simone Steinlicht, Yong Tae Kwon, Philippe Vanlieferinghen, Ron Auslender, Matthias Beier, Georg Hülskamp, Julia Mayerle, Alexander Varshavsky, Stavit A. Shalev, Arif B. Ekici, Manfred Rauh, Vera Lúcia Gil-da-Silva-Lopes
Publikováno v:
Nature Genetics. 38:265-265
Autor:
Celina Guzman, Richard Hamilton
Publikováno v:
Pediatric research. 20(12)
To assess the effect of chronic undernutrition on intestinal epithelial repair after injury, we studied 10-wk-old rabbits, nutritionally deprived for 6 wk (body weight 1.95 +/- 0.2 kg versus controls, 2.68 +/- 0.7 kg, p less than 0.001). Intestinal s