المؤلفون: C. Moloney, A. Long, G.M. Pastores, B.J. Plant, D.M. Murphy

المصدر: Respiratory Medicine Case Reports, Vol 29, Iss , Pp - (2020)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213007119303041; https://doaj.org/toc/2213-0071

URL الوصول: https://doaj.org/article/c3874d6da5b44d0cbf81e43fc46deffa

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

المؤلفون: D.A. Hughes, G.M. Pastores

مصطلحات موضوعية: medicine.medical_specialty, Anemia, business.industry, Central nervous system, Hepatosplenomegaly, Disease, Enzyme replacement therapy, medicine.disease, Gastroenterology, Gaucher's disease, medicine.anatomical_structure, Internal medicine, medicine, In patient, Oculomotor apraxia, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ea3fe16a4975e2bbfccadd875112bb2
https://doi.org/10.1016/b978-0-12-385157-4.00100-7

المؤلفون: H.A. Lau, G.M. Pastores

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Cherry-red spot, medicine.disease, Intracellular cholesterol transport, Sphingolipid, Supranuclear gaze palsy, Endocrinology, Internal medicine, Miglustat, medicine, Acid sphingomyelinase, NPC1, medicine.symptom, business, Niemann–Pick disease, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c2ff5e030e4f9e0c8be149da9949ba7a
https://doi.org/10.1016/b978-0-12-385157-4.00102-0

المؤلفون: G.M. Pastores, D.A. Hughes

مصطلحات موضوعية: Newborn screening, business.industry, medicine.medical_treatment, Leukodystrophy, Hepatosplenomegaly, Prenatal diagnosis, Enzyme replacement therapy, Hematopoietic stem cell transplantation, Disease, medicine.disease, Bioinformatics, medicine, I-cell disease, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35d479c35c3904364c0f2ac015804122
https://doi.org/10.1016/b978-0-12-385157-4.00096-8

المؤلفون: G.M. Pastores

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::71ba4fe481d9d5294feca6dbc5da92d2
https://doi.org/10.1016/b978-008045046-9.01512-6

المؤلفون: J.I. Pérez-Calvo, M. Roca-Espiaú, G.M. Pastores

المصدر: QJM: An International Journal of Medicine; Dec2005, Vol. 98 Issue 12, p916-918, 3p