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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 3مصطلحات 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
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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-ELSEVIERمصطلحات 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
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4Severe exfoliative erythema of malnutrition in a child with coexisting coeliac and Hartnup’s disease
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 -
5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
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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
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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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