المؤلفون: Jesús M. Meléndez-Montañez, Wilfredo De Jesús-Rojas

المصدر: Children; Volume 10; Issue 2; Pages: 280

مصطلحات موضوعية: cystic fibrosis, CFTR -related metabolic syndrome, chronic/recurrent pancreatitis, CFTR gene, CFTR -related disease, pancreatic insufficiency

وصف الملف: application/pdf

Relation: Pediatric Pulmonary and Sleep Medicine; https://dx.doi.org/10.3390/children10020280

الاتاحة: https://doi.org/10.3390/children10020280

المؤلفون: Michael H. Farrell, Katherine E. Mooney, Anita Laxova, Philip M. Farrell

المصدر: International Journal of Neonatal Screening; Volume 8; Issue 4; Pages: 54

مصطلحات موضوعية: cystic fibrosis, incidental findings, CFTR-related metabolic syndrome, cystic fibrosis screen positive inconclusive diagnosis, newborn screening, next generation sequencing, policy

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns8040054

الاتاحة: https://doi.org/10.3390/ijns8040054

المؤلفون: Jane Chudleigh, Jürg Barben, Clement L. Ren, Kevin W. Southern

المصدر: International Journal of Neonatal Screening; Volume 8; Issue 1; Pages: 5

مصطلحات موضوعية: cystic fibrosis, newborn bloodspot screening, CFTR-related metabolic syndrome, cystic fibrosis screen positive, inconclusive diagnosis

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns8010005

الاتاحة: https://doi.org/10.3390/ijns8010005

المؤلفون: Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: CF screen positive inconclusive diagnosis (CFSPID), CFTR-related metabolic syndrome (CRMS), Newborn screening, Sweat test, Trypsinogen, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-019-1756-4; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/7b7dc0389d05407d9f20efd82bd3212f

المؤلفون: Mohini A. Gunnett, Elizabeth Baker, Cathy Mims, Staci T. Self, Hector H. Gutierrez, Jennifer S. Guimbellot

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, CF, cystic fibrosis, CFTR (cystic fibrosis transmembrane conductance regulator), NBS (Newborn screening), SCT (sweat chloride testing), CFSPID/CRMS, CF screen positive, inconclusive diagnosis (CFSPID)/CFTR-related metabolic syndrome (CRMS)

Relation: https://figshare.com/articles/dataset/Table2_Outcomes_of_children_with_cystic_fibrosis_screen_positive_inconclusive_diagnosis_CFTR_related_metabolic_syndrome_docx/22238590

الاتاحة: https://doi.org/10.3389/fped.2023.1127659.s002
https://figshare.com/articles/dataset/Table2_Outcomes_of_children_with_cystic_fibrosis_screen_positive_inconclusive_diagnosis_CFTR_related_metabolic_syndrome_docx/22238590

المؤلفون: Pagin, Adrien, Sermet-Gaudelus, I., Burgel, P.-R.

المساهمون: CHU Lille, Institut Pasteur de Lille, Université de Lille, IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483, Hôpital Necker - Enfants Malades AP-HP, Hôpital Cochin AP-HP

مصطلحات موضوعية: Cystic fibrosis transmembrane conductance regulator (CFTR), (CRMS)/CF screen positive inconclusive diagnosis (CFSPID), CFTR-related metabolic syndrome, CFTR-related disorders (CFTR-RD), Cystic fibrosis (CF)

وصف الملف: application/octet-stream

Relation: Archives de Pédiatrie; Arch Pediatr; http://hdl.handle.net/20.500.12210/59763

الاتاحة: https://hdl.handle.net/20.500.12210/59763

المؤلفون: Pagin, Adrien, Sermet-Gaudelus, I., Burgel, P.-R.

المساهمون: Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Cochin AP-HP

المصدر: ISSN: 0929-693X.

مصطلحات موضوعية: Cystic fibrosis transmembrane conductance regulator (CFTR), (CRMS)/CF screen positive inconclusive diagnosis (CFSPID), CFTR-related metabolic syndrome, CFTR-related disorders (CFTR-RD), Cystic fibrosis (CF), [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/32172933; hal-03798142; https://hal.univ-lille.fr/hal-03798142; PUBMED: 32172933

الاتاحة: https://hal.univ-lille.fr/hal-03798142
https://doi.org/10.1016/S0929-693X(20)30047-6

المؤلفون: A. Pagin, Isabelle Sermet-Gaudelus, Pierre-Régis Burgel

المساهمون: Impact de l'environnement chimique sur la santé humaine - ULR 4483 (IMPECS), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Cochin [AP-HP], CHU Lille, Institut Pasteur de Lille, Université de Lille, IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

المصدر: Archives de Pédiatrie
Archives de Pédiatrie, 2020, Archives de Pédiatrie, 27 (1), pp.eS25-eS29. ⟨10.1016/S0929-693X(20)30047-6⟩

مصطلحات موضوعية: Male, medicine.medical_specialty, Cystic Fibrosis, [SDV]Life Sciences [q-bio], Cystic Fibrosis Transmembrane Conductance Regulator, Gastroenterology, Cystic fibrosis, Neonatal Screening, Vas Deferens, Channelopathy, Keratoderma, Palmoplantar, Internal medicine, Pancreatitis, Chronic, medicine, Humans, Cystic fibrosis (CF), Genetic Testing, Sinusitis, Sweat, Cystic fibrosis transmembrane conductance regulator (CFTR), (CRMS)/CF screen positive inconclusive diagnosis (CFSPID), CFTR-related metabolic syndrome, CFTR-related disorders (CFTR-RD), Sweat test, Genetic testing, Rhinitis, Newborn screening, Bronchiectasis, medicine.diagnostic_test, business.industry, Infant, Newborn, medicine.disease, Congenital absence of the vas deferens, Pediatrics, Perinatology and Child Health, Mutation, Pancreatitis, Exocrine Pancreatic Insufficiency, business, Algorithms

وصف الملف: application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f489805f60e108f60e8231b10fe2ba8c
https://hal.univ-lille.fr/hal-03798142

المؤلفون: Farrell, Philip M, White, Terry B, Derichs, Nico, Castellani, Carlo, Rosenstein, Beryl J

المساهمون: Farrell, Philip M, White, Terry B, Derichs, Nico, Castellani, Carlo, Rosenstein, Beryl J

مصطلحات موضوعية: CF screen positive, CFSPID, CFTR, CFTR-related metabolic syndrome, CRMS, ICD-10, ICM, IRT, immunoreactive trypsinogen, inconclusive diagnosi, intestinal current measurement, nasal potential difference, newborn screening, sweat test, Cystic Fibrosi, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Testing, History, Human, Infant, Newborn, Neonatal Screening, Practice Guidelines as Topic

Time: 20th Century

Relation: info:eu-repo/semantics/altIdentifier/pmid/28129808; info:eu-repo/semantics/altIdentifier/wos/WOS:000397025700002; volume:181S; firstpage:S16-S26; lastpage:S26; numberofpages:10; journal:THE JOURNAL OF PEDIATRICS; http://hdl.handle.net/11562/981404; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85010377925; https://www.ncbi.nlm.nih.gov/pubmed/?term=28129808

الاتاحة: http://hdl.handle.net/11562/981404
https://doi.org/10.1016/j.jpeds.2016.09.067
https://www.ncbi.nlm.nih.gov/pubmed/?term=28129808

المؤلفون: Farrell, Philip M., White, Terry B., Howenstine, Michelle S., Munck, Anne, Parad, Richard B., Rosenfeld, Margaret, Sommerburg, Olaf, Accurso, Frank J., Davies, Jane C., Rock, Michael J., Sanders, Don B., Wilschanski, Michael, Sermet-Gaudelus, Isabelle, Blau, Hannah, Gartner, Silvia, McColley, Susanna A.

المساهمون: Pediatrics, School of Medicine

المصدر: Author

مصطلحات موضوعية: CF-screen positive, inconclusive diagnosis, CFTR-related metabolic syndrome

وصف الملف: application/pdf

Relation: The Journal of Pediatrics; Farrell, P. M., White, T. B., Howenstine, M. S., Munck, A., Parad, R. B., Rosenfeld, M., … McColley, S. A. (2017). Diagnosis of Cystic Fibrosis in Screened Populations. The Journal of Pediatrics, 181, S33–S44.e2. https://doi.org/10.1016/j.jpeds.2016.09.065; https://hdl.handle.net/1805/14495

الاتاحة: https://hdl.handle.net/1805/14495

المؤلفون: Terry B. White, Nico Derichs, Beryl J. Rosenstein, Philip M. Farrell, Carlo Castellani

مصطلحات موضوعية: sweat test, Pediatrics, medicine.medical_specialty, CF screen positive, CFSPID, CFTR, CFTR-related metabolic syndrome, CRMS, ICD-10, ICM, IRT, immunoreactive trypsinogen, inconclusive diagnosis, intestinal current measurement, nasal potential difference, newborn screening, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Testing, History, 20th Century, Humans, Infant, Newborn, Neonatal Screening, Practice Guidelines as Topic, History, Standardization, Process (engineering), 03 medical and health sciences, 0302 clinical medicine, Continuing medical education, medicine, International Statistical Classification of Diseases and Related Health Problems, 030212 general & internal medicine, business.industry, Diagnostic test, Foundation (evidence), Infant, Newborn, Variety (cybernetics), 20th Century, 030228 respiratory system, Potential difference, Pediatrics, Perinatology and Child Health, Engineering ethics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6df23dc573248db86c52be7f3e5d37b
http://hdl.handle.net/11562/981404