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1دورية أكاديميةPyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.
المؤلفون: Bernhardt, I., Van Dorp, L., Dixon, M., McSweeney, M., Gan, C., Baruteau, J., Chakrapani, A.
المصدر: Journal of Inherited Metabolic Disease Reports; Jan2024, Vol. 65 Issue 1, p10-16, 7p
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2دورية أكاديمية
المؤلفون: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, François-Guillaume, Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up
المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)
مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: urn:issn:0022-3476; urn:issn:1097-6833
URL الوصول: https://orbi.uliege.be/handle/2268/312112
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3كتاب إلكتروني
المؤلفون: Baruteau, J.Aff8, Broomfield, A.Aff8, Crook, V.Aff8, Finnegan, N.Aff8, Harvey, K.Aff9, Burke, D.Aff9, Burch, M.Aff10, Shepherd, G.Aff11, Vellodi, A.Aff8
المساهمون: Zschocke, Johannes, Editor-in-chiefAff1, Aff3, Gibson, K Michael, Editor-in-chiefAff2, Aff4, Brown, Garry, editorAff5, Morava, Eva, editorAff6, Peters, Verena, editorAff7
المصدر: JIMD Reports - Volume 12. 12:99-102
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4دورية أكاديمية
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5دورية أكاديمية
Alternate Title: Psychological management of the children with an inborn disease of metabolism (English)
المؤلفون: Cascales, T., Baruteau, J.
المصدر: In Neuropsychiatrie de l'enfance et de l'adolescence July 2013 61(4):259-266
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6دورية أكاديمية
Alternate Title: New insights into perinatal hemochromatosis (English)
المؤلفون: Baruteau, J., Heissat, S., Collardeau-Frachon, S., Debray, D., Broué, P., Guigonis, V.
المصدر: In Archives de pédiatrie July 2012 19(7):755-761
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
المؤلفون: Baruteau, JAff1, Aff2, Aff3, IDgt201690_cor1, Waddington, S NAff3, Aff4, Alexander, I EAff5, Aff6, Gissen, PAff1, Aff2, Aff7
المصدر: Gene Therapy. 24(5):263-264