المؤلفون: Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Barbara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel

المساهمون: Université de Lille, Inserm, CHU Lille, Physiopathogénèse et Traitement des Maladies du Foie, Institute for Translational Research in Inflammation - U 1286 INFINITE (Ex-Liric)

مصطلحات موضوعية: genetic cholestasis, children, NGS, neonatal sclerosing cholangitis, PFIC, Alagille syndrome, transient neonatal cholestasis

وصف الملف: application/octet-stream

Relation: Diagnostics; Diagnostics (Basel); http://hdl.handle.net/20.500.12210/100811

الاتاحة: https://hdl.handle.net/20.500.12210/100811

المؤلفون: Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

المصدر: European Journal of Medical Genetics , 66 (6) , Article 104764. (2023)

مصطلحات موضوعية: Aortic calcification, Cardiac valve calcification, D409H, Gaucher disease type 3c, Transient neonatal cholestasis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10171058/1/Gaucher%20type%203c%20manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10171058/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10171058/1/Gaucher%20type%203c%20manuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10171058/

المؤلفون: Suneel K Kommineni, Singamala Rufus Rajkumar, Preethi Subramanian, Chitgupikar Sudharshan Raj

المصدر: Pediatric Infectious Disease, Vol 4, Iss 3, Pp 111-113 (2022)

مصطلحات موضوعية: sepsis, transient neonatal cholestasis, ursodeoxycholic acid, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2582-4988

URL الوصول: https://doaj.org/article/4799e117e0f04f56bd4eae2a5ed2d8f4

المؤلفون: Anna Baghdasaryan, Lisa Ofner-Ziegenfuß, Carolin Lackner, Peter Fickert, Bernhard Resch, Nicholas Mark Morris, Andrea Deutschmann

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: BSEP deficiency, Transient neonatal cholestasis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-020-02201-x; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/a8e8bb2c5e6c42f896ae5409b769d2c9

المؤلفون: Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Frederic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broue, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jerome, Jacquemin, Emmanuel, Gonzales, Emmanuel

المساهمون: Centre de référence des Maladies Vasculaires du Foie Paris (FILFOIE), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Physiopathologie et traitement des maladies du foie, Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Hepatinov (DHU), Université Paris-Sud - Paris 11 (UP11)-Centre Hépato-Biliaire Paul Brousse, Hospices Civils de Lyon (HCL), Hôpital Necker - Enfants Malades AP-HP, CHU Marseille, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institute for Translational Research in Inflammation - U 1286 (INFINITE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre hospitalier Félix-Guyon Saint-Denis, La Réunion, Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Hôpital Sud CHU Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Signalisation Hormonale, Physiopathologie Endocrinienne et Métabolique, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: ISSN: 2075-4418 ; Diagnostics ; https://hal.science/hal-03697994 ; Diagnostics, 2022, 12 (5), ⟨10.3390/diagnostics12051169⟩.

مصطلحات موضوعية: Genetic cholestasis, Children, NGS, Neonatal sclerosing cholangitis, PFIC, Alagille syndrome, Transient neonatal cholestasis, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

Relation: info:eu-repo/semantics/altIdentifier/pmid/35626323; PUBMED: 35626323; PUBMEDCENTRAL: PMC9140938

الاتاحة: https://hal.science/hal-03697994
https://hal.science/hal-03697994v1/document
https://hal.science/hal-03697994v1/file/BPH_Diagnostics_2022_Almes.pdf
https://doi.org/10.3390/diagnostics12051169

المؤلفون: Santos Silva, Ermelinda, Moreira Silva, Helena, Catarino, Cristina, Dias, Cláudia Camila, Santos Silva, Alice, Lopes, Ana Isabel

مصطلحات موضوعية: Alpha-1-antitrypsin deficiency, Biliary atresia, Diagnostic decision algorithm, Multivariate prediction models, Neonatal cholestasis, Transient neonatal cholestasis

Relation: info:eu-repo/grantAgreement/FCT/5876/147258/PT; https://www.springer.com/journal/431/; European Journal of Pediatrics (2021); http://hdl.handle.net/10451/45711

الاتاحة: http://hdl.handle.net/10451/45711
https://doi.org/10.1007/s00431-020-03886-z

المؤلفون: Ana-Isabel Lopes, Ermelinda Santos Silva, Cristina Catarino, Helena Silva, Cláudia Camila Dias, Alice Santos-Silva

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: medicine.medical_specialty, Logistic regression, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Cholestasis, Biliary atresia, 030225 pediatrics, Epidemiology, medicine, Humans, 030212 general & internal medicine, Neonatal cholestasis, Retrospective Studies, Alpha-1-antitrypsin deficiency, business.industry, Diagnostic decision algorithm, Infant, Newborn, Infant, medicine.disease, Multivariate prediction models, Confidence interval, 3. Good health, Pediatrics, Perinatology and Child Health, Cohort, Etiology, Transient neonatal cholestasis, business, Algorithm, Algorithms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::087b8291c2b0dcfc58dbb26a12c083a4
https://hdl.handle.net/10451/45711

المؤلفون: Carolin Lackner, Lisa Ofner-Ziegenfuß, Anna Baghdasaryan, Nicholas Morris, Bernhard Resch, Peter Fickert, Andrea Deutschmann

المصدر: BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mutation, Missense, Case Report, Excretion, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Cholestasis, Internal medicine, BSEP deficiency, medicine, Missense mutation, Humans, Neonatal cholestasis, ABCB11, ATP Binding Cassette Transporter, Subfamily B, Member 11, business.industry, Liver Diseases, lcsh:RJ1-570, Infant, Newborn, Infant, lcsh:Pediatrics, Transporter, medicine.disease, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Hepatocyte, Pediatrics, Perinatology and Child Health, Hepatocytes, Transient neonatal cholestasis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d596484ed3b7bbada0a85704642155
https://pubmed.ncbi.nlm.nih.gov/32646411