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1دورية أكاديمية
المؤلفون: Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 223-231 (2014)
مصطلحات موضوعية: Mitochondrial disease, mtDNA depletion, Gaucher disease, Neurohepatic, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Catherine Lombard, Floriane André, Jérôme Paul, Catherine Wanty, Olivier Vosters, Pierre Bernard, Charles Pilette, Pierre Dupont, Etienne M Sokal, Françoise Smets
المصدر: PLoS ONE, Vol 10, Iss 7, p e0132753 (2015)
وصف الملف: electronic resource
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المؤلفون: Valérie Leclercq, Isabelle Maystadt, Catherine Wanty, Olivier Robaux, Damien Lederer, Valérie Benoit, Mélanie Delaunoy, Marcela Ruiz, Claire de Halleux
المصدر: Clinical Case Reports
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, inactivating PTH/PTHrP signaling disorders, Case Report, Case Reports, 030105 genetics & heredity, medicine.disease_cause, Germline, Albright hereditary osteodystrophy, 03 medical and health sciences, GNAS complex locus, Medicine, GNAS mutation, Osteodystrophy, Albright's hereditary osteodystrophy, Pseudohypoparathyroidism, Genetics, Mutation, severe phenotype, biology, business.industry, pseudohypoparathyroidism, General Medicine, medicine.disease, Phenotype, biology.protein, business
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المؤلفون: Francis Veyckemans, Arnaud Potié, Thierry Pirotte, Catherine Wanty, Caroline Pregardien, Françoise Smets, Etienne Sokal, Xavier Stéphenne, Isabelle Scheers
المصدر: Pediatric Anesthesia. 26:649-654
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Adolescent, Endoscope, medicine.medical_treatment, Anesthesia, General, Endoscopy, Gastrointestinal, Laryngeal Masks, Hypoxemia, 03 medical and health sciences, 0302 clinical medicine, 030202 anesthesiology, Gastroscopy, Intubation, Intratracheal, medicine, Humans, Intubation, Child, Adverse effect, Duodenoscopy, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, Retrospective cohort study, Equipment Design, Surgery, Endoscopy, Anesthesiology and Pain Medicine, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Female, 030211 gastroenterology & hepatology, Esophagoscopy, medicine.symptom, business, Airway, Complication
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المؤلفون: Richard J. Thompson, Giorgina Mieli-Vergani, Patricia McClean, Kaija-Leena Kolho, Jennifer L. Dodge, Irena Jankowska, Piotr Czubkowski, Ludmila Pawlikowska, Sami Wali, Florence Lacaille, Philip J. Rosenthal, Steven J. Lobritto, Vera Hupertz, Etienne Sokal, Karan M. Emerick, Sandra Strautnieks, Albertien M. van Eerde, Roderick H. J. Houwen, J A Byrne, Laura N. Bull, Peter F. Whitington, Catherine Wanty, Joanna Pawłowska, Samra Blanchard
المساهمون: Children's Hospital, Clinicum, University of Helsinki, HUS Children and Adolescents
المصدر: Bull, L N, Pawlikowska, L, Strautnieks, S, Jankowska, I, Czubkowski, P, Dodge, J L, Emerick, K, Wanty, C, Wali, S, Blanchard, S, Lacaille, F, Byrne, J A, van Eerde, A M, Kolho, K-L, Houwen, R, Lobritto, S, Hupertz, V, McClean, P, Mieli-Vergani, G, Sokal, E, Rosenthal, P, Whitington, P F, Pawlowska, J & Thompson, R J 2018, ' Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies ', Hepatology Communications, vol. 2, no. 5, pp. 515-528 . https://doi.org/10.1002/hep4.1168
Hepatology communications, 2(5), 515. Wiley-Blackwell Publishing Ltd
Hepatology communications, vol 2, iss 5
Hepatology Communicationsمصطلحات موضوعية: medicine.medical_specialty, Pancreatic disease, Cirrhosis, medicine.medical_treatment, Chronic Liver Disease and Cirrhosis, CHILDREN, Liver transplantation, PHENOTYPIC DIFFERENCES, Gastroenterology, Oral and gastrointestinal, PFIC2, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Cholestasis, Clinical Research, Internal medicine, medicine, PUMP DEFICIENCY, ABCB11 MUTATIONS, ABCB11, EXTERNAL BILIARY DIVERSION, TYPE-1, Transplantation, Hepatology, business.industry, Liver Disease, INTRACTABLE PRURITUS, Progressive familial intrahepatic cholestasis, Original Articles, Organ Transplantation, ILEAL EXCLUSION, medicine.disease, LIVER-TRANSPLANTATION, 3. Good health, 030220 oncology & carcinogenesis, 3121 General medicine, internal medicine and other clinical medicine, Original Article, 030211 gastroenterology & hepatology, Digestive Diseases, business
وصف الملف: application/pdf; image/pdf
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المؤلفون: Sven Seiwerth, Annette M. Müller, Manfred Ratschek, Bożena Cukrowska, Gemma Castillejo, Vanesa Morente, Jorge Amil Dias, Sara Morgenstern, Marco Gasparetto, Nailah Brown, Alexandra Papadopoulou, Gabriele Amann, Kalle Kurppa, Vincenzo Villanacci, Almuthe C. Hauer, Francesc Martínez, Miguel Bolonio, Anikó Nagy, Tine Plato Hansen, Yvan Vandenplas, Sonja Thanner-Lechner, Kaija Laurila, Rita Kőbányai, Søren Thue Lillevang, Zrinjka Mišak, Riccardo Troncone, Pavel Frűhauf, Adina Ene, Jernej Dolinsek, Konstantina Dimakou, Fabio Massimo Magliocca, Annieta Goossens, Vered Nachmias Friedler, Maryam Monajemzadeh, Amir Taher Eftekhar Sadat, Mandana Rafeey, Jan Wyhowski, Rafaella Nenna, Françoise Smets, Hélène Garnier-Lengliné, Marianna Salemme, Martine Vornane, Stine Dydensborg Sander, Hany Banoub, Anne Mourin, Mariantonia Maglio, Stephanie Van Biervliet, Birgit Filipiak, M. L. Mearin, Mehri Najafi, Gauri Batra, Judit Gyimesi, Hubert Kogler, Gabriele Heilig, Raanan Shamir, Laura Petrarca, Katayoun Khatami, Myriam Van Winckel, Susana Corujeira, Hania Szajewska, Ilma Rita Korponay-Szabó, Alina Popp, Stefan Buderus, Sonny K. F. Chong, Elke Janssens, Francesca Penagini, Vincent T.H.B.M. Smit, Judit B. Kovács, Rajko Kavalar, Thomas Kirchner, Carmen Ribes-Koninckx, Renata Auricchio, Ruth Achten, Ester Donat, Catherine Wanty, Nicolas Kalach, Danielle Canioni, Philippe Alliet, Ilona Lellei, Sibylle Koletzko, Yulia Dmitrieva, Fátima Carneiro, Liz Hook, David Fernández Ramos, Roberta Kosova, Dmitry Abramov, Markku Mäki, Helena Skalova, Adrian G. Thomas, Steffen Husby, Steve Sampson, Katharina Julia Werkstetter, Piotr Socha, Andreas Vécsei, Amalia Patereli, Peter Szitanyi, Saskia Vande Velde, Maaike W. Schaart, Pierre Gosset
المساهمون: Growth and Development, Clinical sciences, Werkstetter, K. J, Korponay Szabó, I. R, Popp, A, Villanacci, V, Salemme, M, Heilig, G, Lillevang, S. T, Mearin, M. L, Ribes Koninckx, C, Thomas, A, Troncone, Riccardo, Filipiak, B, Mäki, M, Gyimesi, J, Najafi, M, Dolinšek, J, Dydensborg Sander, S, Auricchio, Renata, Papadopoulou, A, Vécsei, A, Szitanyi, P, Donat, E, Nenna, R, Alliet, Ph, Penagini, F, Garnier Lengliné, H, Castillejo, G, Kurppa, K, Shamir, R, Hauer, A. C, Smets, F, Corujeira, S, van Winckel, M, Buderus, S, Chong, S, Husby, S, Koletzko, S, Socha, Piotr, Bozena Cukrowska, Null, Szajewska, Hania, Wyhowski, Jan, Brown, Nailah, Batra, Gauri, Misak, Zrinjka, Seiwerth, Sven, Dmitrieva, Yulia, Abramov, Dmitry, Vandenplas, Yvan, Goossens, Annieta, Schaart, Maaike W, Smit, V. T. H. B. M, Kalach, Nicola, Gosset, Pierre, Kovács, Judit B, Nagy, Anikó, Lellei, Ilona, Kőbányai, Rita, Khatami, Katayoun, Monajemzadeh, Maryam, Dimakou, Konstantina, Patereli, Amalia, Plato Hansen, Tine, Kavalar, Rajko, Bolonio, Miguel, Kogler, Hubert, Amann, Gabriele, Kosova, Roberta, Maglio, Mariantonia, Janssens, Elke, Achten, Ruth, Frűhauf, Pavel, Skálová, Helena, Kirchner, Thoma, Petrarca, Laura, Magliocca, Fabio Massimo, Martínez, Francesc, Morente, Vanesa, Thanner Lechner, Sonja, Ratschek, Manfred, Gasparetto, Marco, Hook, Liz, Canioni, Danielle, Wanty, Catherine, Mourin, Anne, Laurila, Kaija, Vornane, Martine, Nachmias Friedler, Vered, Morgenstern, Sara L, Amil Dias, Jorge, Carneiro, Fátima, Van Biervliet, Stephanie, Vande Velde, Saskia, Banoub, Hany, Sampson, Steve, Müller, Annette M, Ene, Adina, Rafeey, Mandana, Eftekhar Sadat, Iran Amir Taher
المصدر: Werkstetter, K J, Korponay-Szabó, I R, Popp, A, Villanacci, V, Salemme, M, Heilig, G, Lillevang, S T, Mearin, M L, Ribes-Koninckx, C, Thomas, A, Troncone, R, Filipiak, B, Mäki, M, Gyimesi, J, Najafi, M, Dolinšek, J, Dydensborg Sander, S, Auricchio, R, Papadopoulou, A, Vécsei, A, Szitanyi, P, Donat, E, Nenna, R, Alliet, P, Penagini, F, Garnier-Lengliné, H, Castillejo, G, Kurppa, K, Shamir, R, Hauer, A C, Smets, F, Corujeira, S, van Winckel, M, Buderus, S, Chong, S, Husby, S, Koletzko, S, Socha, P, Bozena Cukrowska, Szajewska, H, Wyhowski, J, Brown, N, Batra, G, Misak, Z, Seiwerth, S, Dmitrieva, Y, Abramov, D, Vandenplas, Y, Goossens, A, Plato Hansen, T & ProCeDE study group 2017, ' Accuracy in Diagnosis of Celiac Disease Without Biopsies in Clinical Practice ', Gastroenterology, vol. 153, no. 4, pp. 924–935 . https://doi.org/10.1053/j.gastro.2017.06.002
Gastroenterology, 153(4), 924-935
Gastroenterology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Male, Autoimmunity, ESPGHAN, nonbiopsy approach, ProCeDE study, adolescent, autoantibodies, biomarkers, biopsy, celiac disease, child, child preschool, Europe, female, GTP-binding proteins, HLA-DQ antigens, humans, immunoglobulin A, infant, intestine small, male, Middle East, molecular diagnostic techniques, predictive value of tests, prognosis, prospective studies, reproducibility of results, serologic tests, transglutaminases, Biopsy, gastroenterology, non-biopsy approach, HLA-DQ Antigens/genetics, 0302 clinical medicine, Immunoglobulin A/blood, Intestine, Small, Nonbiopsy Approach, Prospective Studies, Prospective cohort study, Child, education.field_of_study, medicine.diagnostic_test, Orvostudományok, Prognosis, Multicenter Study, medicine.anatomical_structure, Molecular Diagnostic Techniques, Transglutaminases/immunology, Predictive value of tests, Child, Preschool, 030211 gastroenterology & hepatology, Female, Intestine, Small/immunology, medicine.medical_specialty, Child, preschool, Adolescent, Anemia, Population, Celiac Disease/blood, Klinikai orvostudományok, 03 medical and health sciences, autoimmunity, proCeDE study, GTP-Binding Proteins, Predictive Value of Tests, 030225 pediatrics, Internal medicine, HLA-DQ Antigens, medicine, Journal Article, Humans, Protein Glutamine gamma Glutamyltransferase 2, Serologic Tests, Validation Studies, education, Pediatric gastroenterology, GTP-Binding Proteins/immunology, ProCeDE Study, Transglutaminases, business.industry, Infant, Reproducibility of Results, Hepatology, Endomysium, medicine.disease, Surgery, Immunoglobulin A, Celiac Disease, hepatology, business, Autoantibodies/blood, Biomarkers/blood
وصف الملف: application/pdf
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المؤلفون: Nicole Revencu, François-Guillaume Debray, Catherine Wanty, Willy Lissens, Sara Seneca, Joél Smet, Laurent Weekers, Boel De Paepe, Julie Harvengt, Christine Sempoux, Rudy Van Coster, Etienne Sokal
المساهمون: Clinical sciences, Reproduction and Genetics, Medical Genetics
المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 223-231 (2014)
Molecular Genetics and Metabolism Reports
MOLECULAR GENETICS AND METABOLISM REPORTSمصطلحات موضوعية: Pathology, medicine.medical_specialty, Mitochondrial disease, Hepatosplenomegaly, Respiratory chain, Gaucher disease, Biology, Endocrinology, Medicine and Health Sciences, Genetics, medicine, Oculomotor apraxia, MPV17, Molecular Biology, Neurohepatic, lcsh:QH301-705.5, Cytopenia, lcsh:R5-920, mtDNA depletion, neurohepatic, Enzyme replacement therapy, medicine.disease, mtDNA, mitochondrial DNA, Transplantation, ERT, enzyme replacement therapy, mitochondrial disease, lcsh:Biology (General), medicine.symptom, lcsh:Medicine (General), Research Paper
وصف الملف: application/pdf
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المصدر: Journal of Pediatric Gastroenterology & Nutrition. 56:537-543
مصطلحات موضوعية: medicine.medical_specialty, Gastrointestinal bleeding, medicine.medical_treatment, Color, Portoenterostomy, Hepatic, Liver transplantation, Esophageal and Gastric Varices, Severity of Illness Index, Gastroenterology, Esophageal varices, Biliary Atresia, Risk Factors, Biliary atresia, Internal medicine, Severity of illness, Prevalence, medicine, Humans, Retrospective Studies, medicine.diagnostic_test, business.industry, Age Factors, Fibrinogen, Infant, Endoscopy, Retrospective cohort study, medicine.disease, Liver Transplantation, Surgery, Child, Preschool, Multivariate Analysis, Pediatrics, Perinatology and Child Health, Upper gastrointestinal bleeding, Gastrointestinal Hemorrhage, business
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المؤلفون: Allison Gilis, Raymond Reding, Catherine Wanty, Nicole Revencu, Muriel Girard, Alexandra Henrion Caude, Emmanuel Jacquemin, Françoise Smets, Etienne Sokal, Xavier Stéphenne, Massimiliano Paganelli, Emmanuel Gonzales
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 53:350-354
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ichthyosis, business.industry, Cholangitis, Sclerosing, Infant, Newborn, Gastroenterology, Infant, Membrane Proteins, Syndrome, medicine.disease, Liver disease, Child, Preschool, Claudin-1, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, Claudin, business, Gene Deletion, Ichthyosis, Lamellar
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المؤلفون: Françoise Smets, Etienne Sokal, Xavier Stéphenne, Catherine Wanty
المصدر: Archives de Pédiatrie. 18:863-869
مصطلحات موضوعية: Gynecology, Anti tumor necrosis factor alpha, medicine.medical_specialty, Anticorps monoclonal, Crohn disease, business.industry, medicine.drug_class, Anti tnf alpha, Monoclonal antibody, Infliximab, Pediatrics, Perinatology and Child Health, medicine, business, Tumor necrosis factor α, medicine.drug