المؤلفون: S Ünal, J Koeglmeier, M Meissl, H Ayyıldız Civan, J Melek, T Siahanidou, A M Demir, Patrick Gerner, J H Montoya, Duba H-C., Denise Aldrian, A Koutroumpa, Sahar Mansour, Michael W. Hess, Murat Cakir, Georg F. Vogel, Thomas Müller, J Hornova, T K Frey, Aysel Ünlüsoy Aksu, Y Rachman, Ekkehard Sturm, Andreas R. Janecke, G Düker, M Miqdady, Lukas A. Huber, R Lima, Frank M. Ruemmele, Carsten Posovszky, J Hertecant, Holm H. Uhlig, E Ramos Boluda, Stefan Wirth, Raffi Lev-Tzion, C Deppisch, R Lanzersdorfer, Merit M. Tabbers, Simone Kathemann, Yaron Avitzur

المساهمون: Paediatric Gastroenterology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Journal of Clinical Medicine, Vol 10, Iss 481, p 481 (2021)
Journal of clinical medicine, 10(3):481, 1-15. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Volume 10
Issue 3

مصطلحات موضوعية: Diarrhea, 0301 basic medicine, medicine.medical_specialty, Genetic counseling, Myosin, Medizin, lcsh:Medicine, Disease, Myosins, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, lack of protein, Medicine, Enteropathy, ddc:610, tail domain, Lack of protein, Cholestasis, business.industry, Genotype–phenotype correlation, lcsh:R, Progressive familial intrahepatic cholestasis, General Medicine, genotype–phenotype correlation, Tail domain, medicine.disease, congenital diarrheal diseases, Phenotype, PFIC, Cholestase, Transplantation, Durchfall, 030104 developmental biology, Parenteral nutrition, Kontraktile Proteine, MYO5B, enteropathy, YO5B, 030211 gastroenterology & hepatology, progressive familial intrahepatic cholestasis, business, myosin Vbin, DDC 610 / Medicine & health, myosin Vb, microvillus inclusion disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a378cf582516dca7504ff713f219f8f
https://www.mdpi.com/2077-0383/10/3/481

المؤلفون: Annemiek M.J. van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, François Maillot, Francjan J. van Spronsen, K. Ahring, F. Al Mutairi, J.B. Arnoux, D. Ballhausen, J. Baruteau, L. Bernstein, S. Bijarnia-Mahay, F. Boemer, A. Bordugo, L. Brodosi, S. Brooks, H.B. Chew, K. Chyz, M. Coker, C. Collingwood, V. Cornejo, M.L. Couce, A. Cozens, S. Dahri, A.M. Das, C. de Laet, J. de las Heras Montero, A. de Vreugd, F.G. Debray, M. Dercksen, M. Descartes, L. Diogo, E. Drogari, H. Eiroa, F.T. Eminoglu, G.M. Enns, F. Eyskens, F. Feillet, S. Ford, L. Franzson, P. Freisinger, P. Garcia, O. Grafakou, G. Gramer, S. Gray, U. Groselj, S.C. Grünert, D. Haas, B. Handoom, T.B. Harte, C. Hendriksz, R.S. Heredia, J. Hertecant, T. Hoi-Yee Wu, A. Inwood, S.S. Jamuar, P. Jesina, J.J. Jonsson, A. Jovanovic, I. Kern, S. Kilavuz, I. Knerr, D. Kor, D. Korycinska-Chaaban, M. Kreile, B. Kumru, B. Lanpher, R. Lapatto, C. Lavigne, E. Leao-Teles, V. Leuzzi, N. Longo, A. Lopez-Uriarte, C.M.A. Lubout, A. MacDonald, E.M. Megdad, J. Mitchell, F. Mochel, P.J. Moreno-Lozano, A. Morris, C.F. Moura de Souza, T. Munoz, P.I. Nevalainen, M. Oscarson, K. Õunap, S. Paci, G.M. Pastores, P.L. Pearl, F.B. Piazzon, J. Pitt, G. Poon, F. Porta, N. Presner, A.A. Rabaty, K. Reinson, P. Reismann, T. Rink, J.C. Rocha, E. Rodrigues, A.G. Saini, A. Sanchez-Valle, J. Sander, P. Sarkhail, I.V.D. Schwartz, R. Sharma, B. Sheng, K. Siriwardena, S. Sirrs, D.R. Sjarif, N. Sondheimer, R. Sparkes, N. Specola, K.M. Stepien, I. Szatmari, M. Tchan, T. Tkemaladze, C. Tran, M.G. Valle, M. Vela-Amieva, M.L. Verdaguer, S.A. Vergano, P. Vermeersch, R. Vulturar, M.A.E.M. Wagenmakers, N. Weinhold, A.B. Williams, W.G. Wilson, D. Zafeiriou, H. Zhang, A. Ziagaki, J. Zolkowska

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Pediatrics, 239, 231-234.e2
Journal of Pediatrics, 239, pp. 231-234.e2
Journal of Pediatrics, 239, 231-+. MOSBY-ELSEVIER

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Delayed Diagnosis, Adolescent, Refugee, media_common.quotation_subject, Immigration, phenylketonuria, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], late diagnosis, Emigrants and Immigrants, CHILDREN, immigrant, Global Health, Health Services Accessibility, Young Adult, NBS, Neonatal Screening, Phenylketonurias, MANAGEMENT, Medicine, Humans, LATE-DIAGNOSED PHENYLKETONURIA, refugee, Child, media_common, Newborn screening, business.industry, Health Policy, International survey, Infant, Newborn, Infant, nutritional and metabolic diseases, food and beverages, ADULTS, Late diagnosis, Family medicine, Child, Preschool, Health Care Surveys, PKU, Pediatrics, Perinatology and Child Health, embryonic structures, Female, business

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7348c15ff180e1571446dba681221c93
http://hdl.handle.net/2066/244721

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المؤلفون: C. S. Sander, T. G. Berger, J. Hertecant, Y. M. Abdulrazzaq

المصدر: Clinical and Experimental Dermatology. 34:178-182

مصطلحات موضوعية: Parents, Pathology, medicine.medical_specialty, Glutens, Erythema, Glossitis, Dermatology, Child Nutrition Disorders, Hartnup disease, Diet, Gluten-Free, medicine, Humans, Skin, integumentary system, business.industry, Kwashiorkor, Alopecia, Hartnup Disease, Vitamins, Angular cheilitis, medicine.disease, Hyperpigmentation, Celiac Disease, Malnutrition, Treatment Outcome, Child, Preschool, Female, Gluten free, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ee128d6ddf2f985a4a1fd9704e225f
https://doi.org/10.1111/j.1365-2230.2008.02773.x

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المؤلفون: H, Al Hosani, M, Salah, H M, Osman, H M, Farag, L, El-Assiouty, D, Saade, J, Hertecant

المصدر: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 20(1)

مصطلحات موضوعية: Male, Neonatal Screening, National Health Programs, Infant, Newborn, Humans, Mass Screening, United Arab Emirates, Female, Program Development, Infant, Newborn, Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f0d5ba4ad39b410be768e7105864204a
https://pubmed.ncbi.nlm.nih.gov/24932929

المؤلفون: Madeleine D. Harbison, Antoinette Moran, Richard E. Neiberger, Ji-Qing Wei, C. H. L. Shackleton, H M Hanauske-Abel, Zygmunt S. Krozowski, John W. Funder, Robert C. Wilson, J Hertecant

المصدر: The Journal of Clinical Endocrinology & Metabolism. 80:3145-3150

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical Biochemistry, Consanguinity, Biology, Gene mutation, medicine.disease_cause, Compound heterozygosity, Biochemistry, Isozyme, Endocrinology, Metabolic Diseases, Mineralocorticoids, Internal medicine, medicine, Humans, Amino Acid Sequence, Child, Molecular Biology, Genetics, Mutation, Homozygote, Biochemistry (medical), Hydroxysteroid Dehydrogenases, medicine.disease, Pedigree, Genes, Mineralocorticoid, Child, Preschool, 11-beta-Hydroxysteroid Dehydrogenases, Female, Apparent mineralocorticoid excess syndrome, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d102cead3f2ceb3e085111268845f994
https://doi.org/10.1210/jcem.80.11.7593417

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