المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857

المؤلفون: Parenti G., Fecarotta S., Alagia M., Attaianese F., Verde A., Tarallo A., Gragnaniello V., Ziagaki A., Guimaraes M. J., Aguiar P., Hahn A., Azevedo O., Donati M. A., Kiec-Wilk B., Scarpa M., van der Beek N. A. M. E., Del Toro Riera M., Germain D. P., Huidekoper H., van den Hout J. M. P., van der Ploeg A. T., Zeman J., Witters P., Weinhold N., Vijay S., van Hasselt P. M., Ullrich K., Tournev I., Salviati A., Rutsch F., Roland D., Rokicki D., Rodrigues E., Pfliegler G., Miclea D., Martins E., Martin-Hernandez E., Komninaka V., Kingma S., Jones S., Hiwot T. G., Hennermann J., Guffon-Fouilhoux N., Grosso S., Lopez A. G. -M., Gasperini S., Gaspar A. M., Ferreira A., Eyskens F., Dobbelaere D., Di Rocco M., De Las Heras Montero J., de Abreu Freire Diogo Matos L. M., Deegan P., Debray F. G., Das A. M., Darin N., Couce-Pico M. L., Chronopoulou E., Chabrol B., Cassiman D., Burlina A., Brassier A., Bosch A. M., Bordugo A., Belmatoug N., Batzios S., Baric I.

المساهمون: Parenti, G., Fecarotta, S., Alagia, M., Attaianese, F., Verde, A., Tarallo, A., Gragnaniello, V., Ziagaki, A., Guimaraes, M. J., Aguiar, P., Hahn, A., Azevedo, O., Donati, M. A., Kiec-Wilk, B., Scarpa, M., van der Beek, N. A. M. E., Del Toro Riera, M., Germain, D. P., Huidekoper, H., van den Hout, J. M. P., van der Ploeg, A. T., Zeman, J., Witters, P., Weinhold, N., Vijay, S., van Hasselt, P. M., Ullrich, K., Tournev, I., Salviati, A., Rutsch, F., Roland, D., Rokicki, D., Rodrigues, E., Pfliegler, G., Miclea, D., Martins, E., Martin-Hernandez, E., Komninaka, V., Kingma, S., Jones, S., Hiwot, T. G., Hennermann, J., Guffon-Fouilhoux, N., Grosso, S., Lopez, A. G. -M., Gasperini, S., Gaspar, A. M., Ferreira, A., Eyskens, F., Dobbelaere, D., Di Rocco, M., De Las Heras Montero, J., de Abreu Freire Diogo Matos, L. M., Deegan, P., Debray, F. G., Das, A. M., Darin, N., Couce-Pico, M. L., Chronopoulou, E., Chabrol, B., Cassiman, D., Burlina, A., Brassier, A., Bosch, A. M., Bordugo, A., Belmatoug, N., Batzios, S., Baric, I.

مصطلحات موضوعية: Acid alpha-glucosidase deficiency, Acid maltase deficiency, Glycogen storage disease (GSD) type II, Lysosomal storage disease, Pompe disease

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001346304100001; volume:19; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11588/989628

الاتاحة: https://hdl.handle.net/11588/989628
https://doi.org/10.1186/s13023-024-03373-w

المؤلفون: Schaefers, J., van der Giessen, L. J., Klees, C., Jacobs, E. H., Sieverdink, S., Dremmen, M. H.G., Spoor, J. K.H., van der Ploeg, A. T., van den Hout, J. M.P., Huidekoper, H. H.

المصدر: Schaefers , J , van der Giessen , L J , Klees , C , Jacobs , E H , Sieverdink , S , Dremmen , M H G , Spoor , J K H , van der Ploeg , A T , van den Hout , J M P & Huidekoper , H H 2021 , ' Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa ' , Orphanet Journal of Rare Diseases , vol. 16 , no. 1 , 221 . https://doi.org/10.1186/s13023-021-01858-6

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

الاتاحة: https://pure.eur.nl/en/publications/13a61218-f950-4b5b-a18b-25c5d23b6260
https://doi.org/10.1186/s13023-021-01858-6
http://www.scopus.com/inward/record.url?scp=85105773256&partnerID=8YFLogxK

المؤلفون: Ditters, I., van Kooten, H., van der Beek, N., van den Hout, J., Huidekoper, H., van der Ploeg, A.

المصدر: Neuromuscular Disorders ; volume 31, page S111 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.227
https://api.elsevier.com/content/article/PII:S0960896621004144?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621004144?httpAccept=text/plain

المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.

المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831

مصطلحات موضوعية: Pediatrics, Pediatrik, Neurology, Neurologi, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine

URL الوصول: https://gup.ub.gu.se/publication/316437

المؤلفون: van Kooten, H. A., Harlaar, L., van der Beek, N. A. M. E., van Doorn, P. A., van der Ploeg, A. T., Brusse, E., van der Pol, W. L., Ditters, I. A. M., Hoogendijk-Boon, M. J., Huidekoper, H. H., Kompanje, E. J. O., Oskam, A., Pijnappel, W. W. M., Sibbles, B. J., van den Dorpel, J. J. A., van der Hout, J. M. P., van der Kuy, H., van Doom, P. A., Vulto, A. G., Wagenmakers, M. A. E. M.

المصدر: van Kooten , H A , Harlaar , L , van der Beek , N A M E , van Doorn , P A , van der Ploeg , A T , Brusse , E , van der Pol , W L , Ditters , I A M , Hoogendijk-Boon , M J , Huidekoper , H H , Kompanje , E J O , Oskam , A , Pijnappel , W W M , Sibbles , B J , van den Dorpel , J J A , van der Hout , J M P , van der Kuy ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A, name=EMC MM-04-54-08-A

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/44a18295-9f5b-44b9-9751-ba905b776db9
https://doi.org/10.1016/j.nmd.2019.11.007
https://pure.eur.nl/ws/files/80632805/1_s2.0_S0960896619312052_main.pdf
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:000525822000009&DestLinkType=FullRecord&DestApp=WOS

المؤلفون: Crefcoeur, L., Ferdinandusse, S., Crabben, S.N. van der, Dekkers, E., Fuchs, Sabine A., Huidekoper, H., Janssen, M.C.H., Langendonk, J., Maase, R., Sain, M. de, Rubio, E., Spronsen, F.J. van, Vaz, F.M., Verschoof, R., Vries, M.C. de, Wijburg, F., Visser, G., Langeveld, M.

المصدر: Journal of Medical Genetics, 60, 12, pp. 1177-1185

مصطلحات الفهرس: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Internal Medicine, Radboudumc 6: Metabolic Disorders Paediatrics, Article / Letter to editor

URL: https://repository.ubn.ru.nl/handle/2066/300093

المؤلفون: Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnytė, Birutė, Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.

المصدر: Orphanet journal of rare diseases., London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]. ; eISSN 1750-1172

مصطلحات موضوعية: Galactosemia, Galactosemia network, GALT deficiency, Natural history, Registry

وصف الملف: application/pdf

Relation: https://epublications.vu.lt/object/elaba:36925658/36925658.pdf; https://repository.vu.lt/VU:ELABAPDB36925658&prefLang=en_US

الاتاحة: https://repository.vu.lt/VU:ELABAPDB36925658&prefLang=en_US

المؤلفون: Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, Matthias, Treacy, E P, Berry, G T

المصدر: Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; Coelho, A I; Cassiman, D; Couce, M L; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, M T; Grunewald, S; Häberle, J; Hochuli, M; Hubert, A; Huidekoper, H H; Janeiro, P; Kotzka, J; Knerr, I; . (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/136908/

الاتاحة: https://boris.unibe.ch/136908/1/Unbenannt.pdf
https://boris.unibe.ch/136908/

المؤلفون: Ditters I. A. M., Huidekoper H. H., Kruijshaar M. E., Rizopoulos D., Hahn A., Mongini T. E., Labarthe F., Tardieu M., Chabrol B., Brassier A., Parini R., Parenti G., van der Beek N. A. M. E., van der Ploeg A. T., van den Hout J. M. P., Mengel E., Hennermann J., Smitka M., Muschol N., Marquardt T., Marquardt M., Thiels C., Spada M., Pagliardini V., Menni F., della Casa R., Deodato F., Gasperini S., Burlina A., Donati A., Pichard S., Feillet F., Huet F., Mention K., Eyer D., Kuster A., Espil Taris C., Lefranc J., Barth M., Bruel H., Chevret L., Pitelet G., Pitelet C., Rivier F., Dobbelaere D.

المساهمون: Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P., Mengel, E., Hennermann, J., Smitka, M., Muschol, N., Marquardt, T., Marquardt, M., Thiels, C., Spada, M., Pagliardini, V., Menni, F., della Casa, R., Deodato, F., Gasperini, S., Burlina, A., Donati, A., Pichard, S., Feillet, F., Huet, F., Mention, K., Eyer, D., Kuster, A., Espil Taris, C., Lefranc, J., Barth, M., Bruel, H., Chevret, L., Pitelet, G., Pitelet, C., Rivier, F., Dobbelaere, D.

مصطلحات موضوعية: Cardiomyopathy, Hypertrophic, Europe, Human, Infant, Walking, alpha-Glucosidase, Dose-Response Relationship, Drug, Enzyme Replacement Therapy, Glycogen Storage Disease Type II

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000823076100017; volume:6; issue:1; firstpage:28; lastpage:37; numberofpages:10; journal:THE LANCET CHILD & ADOLESCENT HEALTH; http://hdl.handle.net/11588/870279; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121122562

الاتاحة: http://hdl.handle.net/11588/870279
https://doi.org/10.1016/S2352-4642(21)00308-4

المؤلفون: Ditters, I., van der Ploeg, A., van der Beek, N., van den Hout, J., Huidekoper, H.

المصدر: Neuromuscular Disorders ; volume 32, page S77 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2022.07.146
https://api.elsevier.com/content/article/PII:S0960896622003480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896622003480?httpAccept=text/plain

المؤلفون: Mazurkiewicz-Beldzinska M., del Toro M., Haliloglu G., Huidekoper H. H., Kravljanac R., Muhlhausen C., Andersen B. N., Prpic I., Striano P., Auvin S.

المساهمون: Mazurkiewicz-Beldzinska, M., del Toro, M., Haliloglu, G., Huidekoper, H. H., Kravljanac, R., Muhlhausen, C., Andersen, B. N., Prpic, I., Striano, P., Auvin, S.

مصطلحات موضوعية: CLN2 disease, diagnosi, epilepsy, language, late infantile, seizure, Child, Preschool, Disease Progression, Enzyme Replacement Therapy, Human, Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33538188; info:eu-repo/semantics/altIdentifier/wos/WOS:000625516700001; volume:21; firstpage:1275; lastpage:1282; numberofpages:8; journal:EXPERT REVIEW OF NEUROTHERAPEUTICS; http://hdl.handle.net/11567/1083937; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118403343

الاتاحة: http://hdl.handle.net/11567/1083937
https://doi.org/10.1080/14737175.2021.1885374

المؤلفون: Vaz, F M., Paulusma, C.C., Huidekoper, H., de Ru, M., Lim, C., Koster, J., Ho-Mok, K., Bootsma, A.H., Groen, A.K., Schaap, F.G., Oude Elferink, R.P., Waterham, H.R., Wanders, R.J.

المصدر: Vaz , F M , Paulusma , C C , Huidekoper , H , de Ru , M , Lim , C , Koster , J , Ho-Mok , K , Bootsma , A H , Groen , A K , Schaap , F G , Oude Elferink , R P , Waterham , H R & Wanders , R J 2015 , ' Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype ' , Hepatology , vol. 61 , no. 1 , pp. 260-267 . https://doi.org/10.1002/hep.27240

مصطلحات موضوعية: BILE-ACID TRANSPORTERS, FAMILIAL INTRAHEPATIC CHOLESTASIS, LIVER, HEPATOCYTES, EXPRESSION, MUTATIONS, DRUG

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/06ae2831-6235-4910-9787-0ca134166fa9
https://doi.org/10.1002/hep.27240

المؤلفون: Henk J. Blom, Wilke M, Serwet Demirdas, Marcel J. T. Reinders, George J. G. Ruijter, de Valk W, Michiel Bongaerts, Huidekoper H, Janneke G. Langendonk, Ramon Bonte

مصطلحات موضوعية: Metabolite, Computational biology, Disease, Biology, medicine.disease, Phenotype, chemistry.chemical_compound, Metabolic pathway, Metabolomics, chemistry, Inborn error of metabolism, medicine, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c7e3c7613c08547b3a1d80b5cee565da
https://doi.org/10.1101/2021.05.21.21257573

المؤلفون: Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R.G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K.M., Santer, R., Herget, T., Rennings, A.J., Lefeber, D.J., Mayr, J.A., Thiel, C, Wortmann, S.B.

المصدر: Journal of Inherited Metabolic Disease, 44, 6, pp. 1441-1452

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIHS: Radboud Institute for Health Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl/handle/2066/244209; https://doi.org/10.1002/jimd.12426

الاتاحة: https://repository.ubn.ru.nl/handle/2066/244209
https://doi.org/10.1002/jimd.12426

المؤلفون: Ditters, I., Huidekoper, H., Kruijshaar, M., Hahn, A., Mongini, T., Labarthe, F., Tardieu, M., van den Hout, J., van der Ploeg, A.

المصدر: Neuromuscular Disorders ; volume 30, page S49 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2020.08.013
https://api.elsevier.com/content/article/PII:S0960896620302108?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896620302108?httpAccept=text/plain

المؤلفون: Huidekoper, H. H., Williams, M., van der Ploeg, A. T.

المصدر: Compendium kindergeneeskunde ; page 565-582 ; ISBN 9789036817912 9789036817929

الاتاحة: http://dx.doi.org/10.1007/978-90-368-1792-9_42
http://link.springer.com/content/pdf/10.1007/978-90-368-1792-9_42

المؤلفون: Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce Pico, María de la Luz, Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.

مصطلحات الفهرس: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network, journal article

URL: http://hdl.handle.net/10347/21208
https://doi.org/10.1186/s13023-019-1047-z
https://doi.org/10.1186/s13023-019-1047-z

المؤلفون: Infectieziekten onderzoek3 (Bogaert), UMC Utrecht, Metabole ziekten patientenzorg, HAG Hart- Vaatziekten, Other research (not in main researchprogram), JC onderzoeksprogramma Cardiovasculaire Epidemiologie, AIOS Psychiatrie, Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., De Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P., Berry, G. T.

URL: https://doi.org/10.1186/s13023-019-1047-z
http://hdl.handle.net/1874/391985
https://dspace.library.uu.nl/handle/1874/391985
http://www.scopus.com/inward/record.url?scp=85064994284&partnerID=8YFLogxK
1750-1172
Orphanet Journal of Rare Diseases
14
1
86

المؤلفون: Huidekoper, H. H., Ackermans, M. T., Ruiter, A. F. C., Sauerwein, H. P., Wijburg, F. A.

المصدر: Archives of Disease in Childhood ; volume 99, issue 12, page 1098-1102 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/archdischild-2013-305718
https://syndication.highwire.org/content/doi/10.1136/archdischild-2013-305718