المؤلفون: Gruenert, SC, Gautschi, M, Baker, J, Boyer, M, Burlina, A, Casswall, T, Corpeleijn, W, Ciki, K, Cotter, M, Crushell, E, Derks, TGJ, Haas, D, Kilavuz, S, Kingma, SDK, Korman, SH, Kozek, A, de Laet, C, Mundy, H, Nassogne, MC, Quintero, V, Rossi, A, Spenger, J, Spiegel, R, Stephenne, X, Stojkov, D, Tal, G, Cunha, MVD, Wortmann, SB

المصدر: Molecular genetics and metabolism. 142(2):108486

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:158903598

المؤلفون: Grünert, S.C., Derks, TGJ, Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M.D., Eiroa, H., Finezilber, Y., Moura de Souza, C.F., Garcia-Jiménez, M.C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L.H., Hörbe-Blindt, A., Horka, L.M., Huemer, M., Uçar, S.K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E.M., Maiorana, A., McCandless, S.E., Mitchell, J.J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P.Q., Regier, D., Rossi, A., Santer, R., Schuman, H.C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K.M., Tal, G., Tanšek, M.Z., Torkar, A.D., Tchan, M., Thyagu, S., Schrier Vergano, S.A., Vucko, E., Weinhold, N., Zsidegh, P., Wortmann, S.B.

المصدر: Genetics in medicine, vol. 24, no. 8, pp. 1781-1788

مصطلحات موضوعية: Adolescent, Adult, Benzhydryl Compounds, Child, Preschool, Glucosides, Glycogen Storage Disease Type I/drug therapy, Glycogen Storage Disease Type I/pathology, Granulocyte Colony-Stimulating Factor/therapeutic use, Humans, Infant, Newborn, Neutropenia/drug therapy, Retrospective Studies, Surveys and Questionnaires, Young Adult, GSD Ib, Glycogen storage disease type Ib, Neutropenia, SGLT2 inhibitors, SLC37A4

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/35503103; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_860BBE94D7A38; https://serval.unil.ch/notice/serval:BIB_860BBE94D7A3; https://serval.unil.ch/resource/serval:BIB_860BBE94D7A3.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_860BBE94D7A3
https://doi.org/10.1016/j.gim.2022.04.001
https://serval.unil.ch/resource/serval:BIB_860BBE94D7A3.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_860BBE94D7A38

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 F., 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 F. G., 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., Grunert 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., Ounap 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.

المساهمون: 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 F., 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 F.G., 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., Grunert 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., Ounap 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.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext

الاتاحة: https://hdl.handle.net/11585/928082
https://doi.org/10.1016/j.jpeds.2021.08.070
https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext

المؤلفون: Hübschmann, OK, Horvath, G, Cortès-Saladelafont, E, Yildiz, Y, Mastrangelo, M, Pons, R, Friedman, J, Mercimek-Andrews, S, Wong, S-N, Pearson, TS, Zafeiriou, D, Kulhánek, J, Kurian, MA, López-Laso, E, Oppebøen, M, Kilavuz, S, Wassenberg, T, Goez, H, Scholl-Bürgi, S, Porta, F, Honzík, T, Santer, R, Burlina, A, Sivri, HS, Leuzzi, V, Hoffmann, GF, Jeltsch, K, Hübschmann, D, Garbade, SF, García-Cazorla, A, Opladen, T

المصدر: Nature Communications , 12 , Article 5529. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135974/1/Kurian_s41467-021-25515-5.pdf; https://discovery.ucl.ac.uk/id/eprint/10135974/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135974/1/Kurian_s41467-021-25515-5.pdf
https://discovery.ucl.ac.uk/id/eprint/10135974/

المؤلفون: Hitay İnan, A, Şeker Yılmaz, B, Bulut, FD, Kılavuz, S, Kor, D, Karakaş, M, Önenli Mungan, HN

المصدر: The Journal of Pediatric Research , 8 (2) pp. 206-208. (2021)

مصطلحات موضوعية: Mucopolysaccharidosis, Hunter disease, pebbling sign

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129778/1/JPR-8-206-En.pdf; https://discovery.ucl.ac.uk/id/eprint/10129778/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129778/1/JPR-8-206-En.pdf
https://discovery.ucl.ac.uk/id/eprint/10129778/

المؤلفون: Kılavuz, S, Bulut, D, Kor, D, Şeker-Yılmaz, B, Özcan, N, Incecik, F, Onan, B, Ceylaner, G, Önenli-Mungan, N

المصدر: Neuropediatrics , 52 (5) pp. 358-369. (2021)

مصطلحات موضوعية: glutaric aciduria type 1, acute encephalopathic crises, newborn screening program, dystonia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10122619/1/neuped.pdf; https://discovery.ucl.ac.uk/id/eprint/10122619/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10122619/1/neuped.pdf
https://discovery.ucl.ac.uk/id/eprint/10122619/

المؤلفون: Şeker Yilmaz, B, Kör, D, Bulut, FD, Kilavuz, S, Ceylaner, S, Önenli Mungan, HN

المصدر: Turkish Journal of Medical Sciences (2021) (In press).

مصطلحات موضوعية: Methylmalonic acidemia, complications, novel mutations, outcome

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10119971/1/SAG-2001-72_manuscript_3.pdf; https://discovery.ucl.ac.uk/id/eprint/10119971/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10119971/1/SAG-2001-72_manuscript_3.pdf
https://discovery.ucl.ac.uk/id/eprint/10119971/

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

المؤلفون: Kör, D, Şeker-Yılmaz, B, Bulut, FD, Kılavuz, S, Öktem, M, Ceylaner, S, Yıldızdaş, D, Önenli-Mungan, N

المصدر: The Turkish Journal of Pediatrics , 61 (3) pp. 330-336. (2019)

مصطلحات موضوعية: Propionic acidemia, novel mutation, clinical features, PCCA, PCCB

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10089377/1/propiyonik%20asidemi.pdf; https://discovery.ucl.ac.uk/id/eprint/10089377/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10089377/1/propiyonik%20asidemi.pdf
https://discovery.ucl.ac.uk/id/eprint/10089377/

المؤلفون: Kilavuz, S., Kor, D., Bulut, F.D., Serbes, M., Karagoz, D., Altıntas, D.U., Bisgin, A., Seydaoğlu, G., Mungan, H.N.O.

المصدر: Archives de Pédiatrie ; volume 29, issue 6, page 415-423 ; ISSN 0929-693X

الاتاحة: http://dx.doi.org/10.1016/j.arcped.2022.05.003
https://api.elsevier.com/content/article/PII:S0929693X2200121X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0929693X2200121X?httpAccept=text/plain

المؤلفون: Grünert, S.C. Derks, T.G.J. Adrian, K. Al-Thihli, K. Ballhausen, D. Bidiuk, J. Bordugo, A. Boyer, M. Bratkovic, D. Brunner-Krainz, M. Burlina, A. Chakrapani, A. Corpeleijn, W. Cozens, A. Dawson, C. Dhamko, H. Milosevic, M.D. Eiroa, H. Finezilber, Y. Moura de Souza, C.F. Garcia-Jiménez, M.C. Gasperini, S. Haas, D. Häberle, J. Halligan, R. Fung, L.H. Hörbe-Blindt, A. Horka, L.M. Huemer, M. Uçar, S.K. Kecman, B. Kilavuz, S. Kriván, G. Lindner, M. Lüsebrink, N. Makrilkakis, K. Mei-Kwun Kwok, A. Maier, E.M. Maiorana, A. McCandless, S.E. Mitchell, J.J. Mizumoto, H. Mundy, H. Ochoa, C. Pierce, K. Fraile, P.Q. Regier, D. Rossi, A. Santer, R. Schuman, H.C. Sobieraj, P. Spenger, J. Spiegel, R. Stepien, K.M. Tal, G. Tanšek, M.Z. Torkar, A.D. Tchan, M. Thyagu, S. Schrier Vergano, S.A. Vucko, E. Weinhold, N. Zsidegh, P. Wortmann, S.B.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::55abcd3702c75d5ae349339b83de4103
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3220819

المؤلفون: Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., Opladen, T.

المصدر: Nature Communications, 12, 1

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdf; https://repository.ubn.ru.nl/handle/2066/238541

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdf
https://repository.ubn.ru.nl/handle/2066/238541
https://doi.org/10.1038/s41467-021-25515-5

المؤلفون: Ciftci V., Kılavuz S., Bulut F.D., Mungan H.N., Bisgin A., Dogan M.C.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: erythrodontia, erythropoietic porphyria, tooth discoloration

Relation: International Journal of Paediatric Dentistry; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1111/ipd.12473; https://hdl.handle.net/20.500.12605/12541; 29; 542; 548

الاتاحة: https://hdl.handle.net/20.500.12605/12541
https://doi.org/10.1111/ipd.12473

المؤلفون: Kılıç M., Kasapkara Ç.S., Kılavuz S., Mungan N.Ö., Biberoğlu G.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Aspartate aminotransferase, Aspartate transaminase, Biomarker, GM1-gangliosidosis, Sandhoff disease, Tay-Sachs disease

Relation: Metabolic Brain Disease; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1007/s11011-019-0391-y; https://hdl.handle.net/20.500.12605/10297; 34; 495; 503

الاتاحة: https://hdl.handle.net/20.500.12605/10297
https://doi.org/10.1007/s11011-019-0391-y

المؤلفون: Bulut F.D., Kör D., Şeker-Yılmaz B., Hergüner Ö., Ceylaner S., Özkınay F., Kılavuz S.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Collodion baby, Dystonia, Gaucher disease type II, GBA gene, Ichthyosis

Relation: Metabolic Brain Disease; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1007/s11011-018-0236-0; https://hdl.handle.net/20.500.12605/15407; 33; 1223; 1227

الاتاحة: https://hdl.handle.net/20.500.12605/15407
https://doi.org/10.1007/s11011-018-0236-0

المؤلفون: Bulut F.D., Kör D., Şeker-Yılmaz B., Gül-Mert G., Kılavuz S., Önenli-Mungan N.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Acrocyanosis, C4 and C5 acylcarnitines, Ethylmalonic encephalopathy, Short chain acyl-CoA dehydrogenase deficiency

Relation: Metabolic Brain Disease; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1007/s11011-017-0152-8; https://hdl.handle.net/20.500.12605/22300; 33; 977; 979

الاتاحة: https://hdl.handle.net/20.500.12605/22300
https://doi.org/10.1007/s11011-017-0152-8

المؤلفون: GÜLSOY, ÖZCAN YILDIRIM, FEYZA, Kılavuz Ş

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/07e59db4-bb49-4681-8619-b1eb3ef99c44/oai