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1Academic Journal
المؤلفون: Weinstein, D. A., Jackson, R. J., Brennan, E. A., Williams, M., Davison, J. E., de Boer, F., Derks, T. G.J., Ellerton, C., Faragher, B., Gribben, J., Labrune, P., McKittrick, K. M., Murphy, E., Ross, K. M., Steuerwald, U., Voillot, C., Woodward, A. J.M., Mundy, H. R.
المصدر: Weinstein , D A , Jackson , R J , Brennan , E A , Williams , M , Davison , J E , de Boer , F , Derks , T G J , Ellerton , C , Faragher , B , Gribben , J , Labrune , P , McKittrick , K M , Murphy , E , Ross , K M , Steuerwald , U , Voillot , C , Woodward , A J M & Mundy , H R 2024 , ' Correction to Short and long-term acceptability and efficacy of extended-release cornstarch in the ....
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/7d61b9ec-5a80-47cd-bde6-26e86294eab8
https://research.rug.nl/en/publications/7d61b9ec-5a80-47cd-bde6-26e86294eab8
https://doi.org/10.1186/s13023-024-03305-8
https://pure.rug.nl/ws/files/1132016986/s13023-024-03305-8.pdf
http://www.scopus.com/inward/record.url?scp=85202720282&partnerID=8YFLogxK -
2Academic Journal
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
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3Academic Journal
المؤلفون: Seker Yilmaz, B., Baruteau, J., Arslan, N., Aydin, H. I., Barth, M., Bozaci, A. E., Brassier, A., Canda, E., Cano, A., Chronopoulou, E., Connolly, G. M., Damaj, L., Dawson, C., Dobbelaere, Dries, Douillard, C., Eminoglu, F. T., Erdol, S., Ersoy, M., Fang, S., Feillet, F., Gokcay, G., Goksoy, E., Gorce, M., Inci, A., Kadioglu, B., Kardas, F., Kasapkara, C. S., Kilic Yildirim, G., Kor, D., Kose, M., Marelli, C., Mundy, H., O'Sullivan, S., Ozturk Hismi, B., Ramachandran, R., Roubertie, A., Sanlilar, M., Schiff, M., Sreekantam, S., Stepien, K. M., Uzun Unal, O., Yildiz, Y., Zubarioglu, T., Gissen, P.
المساهمون: Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)
المصدر: ISSN: 2075-1729 ; Life ; https://hal.univ-lille.fr/hal-04748299 ; Life, 2022, Life (Basel), 12, ⟨10.3390/life12111721⟩.
مصطلحات موضوعية: ornithine transcarbamylase deficiency, hyperammonaemia, neonatal-onset, late-onset, asymptomatic, protein restriction, ammonia scavengers, liver transplantation, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/36362876; PUBMED: 36362876
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4Academic Journal
المؤلفون: Mütze, U., Gleich, F., Garbade, S.F., Plisson, C., Aldámiz-Echevarría, L., Arrieta, F., Ballhausen, D., Zielonka, M., Petković Ramadža, D., Baumgartner, M.R., Cano, A., García Jiménez, M.C., Dionisi-Vici, C., Ješina, P., Blom, H.J., Couce, M.L., Meavilla Olivas, S., Mention, K., Mochel, F., Morris, AAM, Mundy, H., Redonnet-Vernhet, I., Santra, S., Schiff, M., Servais, A., Vitoria, I., Huemer, M., Kožich, V., Kölker, S.
المصدر: Journal of inherited metabolic disease, vol. 45, no. 4, pp. 719-733
مصطلحات موضوعية: Betaine/adverse effects, Cystathionine beta-Synthase, Homocysteine, Homocystinuria/drug therapy, Humans, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/genetics, Muscle Spasticity, Psychotic Disorders, E-HOD, betaine anhydrous, homocystinuria, orphan drug, postauthorization safety study, public private partnership, rare disease
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35358327; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5D5BE243D67D6; https://serval.unil.ch/notice/serval:BIB_5D5BE243D67D; https://serval.unil.ch/resource/serval:BIB_5D5BE243D67D.P001/REF.pdf
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5Academic Journal
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
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6Academic Journal
المؤلفون: Grünert, S.C., Derks, T.G., Mundy, H., Dalton, R.N., Donadieu, J., Hofbauer, P., Jones, N., Uçar, S.K., LaFreniere, J., Contreras, E.L., Pendyal, S., Rossi, A, Schneider, B., Spiegel, R., Stepien, K.M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S.B.
المصدر: Molecular Genetics and Metabolism, 141, 3, pp. 108144
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders Paediatrics
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7Academic Journal
المؤلفون: Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS
المصدر: EBioMedicine, 2018
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/246768; https://eprints.ncl.ac.uk/fulltext.aspx?url=246768/7A60FC16-13B1-4FEA-BFB7-128EE03C9992.pdf&pub_id=246768
الاتاحة: https://eprints.ncl.ac.uk/246768
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8Academic Journal
المؤلفون: Ng, YS, Lax, NZ, Maddison, P, Alston, CL, Blakely, EL, Hepplewhite, PD, Riordan, G, Meldau, S, Chinnery, PF, Pierre, G, Chronopoulou, E, Du, A, Hughes, I, Morris, AA, Kamakari, S, Chrousos, G, Rodenburg, RJ, Saris, CGJ, Feeney, C, Hardy, SA, Sakakibara, T, Sudo, A, Okazaki, Y, Murayama, K, Mundy, H, Hanna, MG, Ohtake, A, Schaefer, AM, Champion, MP, Turnbull, DM, Taylor, RW, Pitceathly, RDS, McFarland, R, Gorman, GS
المصدر: EBioMedicine , 30 pp. 86-93. (2018)
مصطلحات موضوعية: Heteroplasmy, Lactic acidosis and stroke-like episodes (MELAS), Leigh syndrome (LS), Mitochondrial DNA, Mitochondrial encephalomyopathy, Neuropathology
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10045483/8/1-s2.0-S2352396418300641-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10045483/
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9Academic Journal
المؤلفون: Taylor, RL, Handley, MT, Waller, S, Campbell, C, Urquhart, J, Meynert, AM, Ellingford, JM, Donnelly, D, Wilcox, G, Lloyd, IC, Mundy, H, FitzPatrick, DR, Deshpande, C, Clayton-Smith, J, Black, GC
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/141264/13/i1552-5783-58-1-594.pdf; Taylor, RL, Handley, MT orcid.org/0000-0001-7200-747X , Waller, S et al. (12 more authors) (2017) Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Investigative Ophthalmology & Visual Science, 58 (1). pp. 594-603. ISSN 0146-0404
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المؤلفون: Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S
المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: homocystinuria, post-authorization safety study, Betaine anhydrous, rare disease, orphan drug, public private partnership, E-HOD
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11
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12Academic Journal
المؤلفون: Leen, W.G. (Wilhelmina), Klepper, J. (Joerg), Verbeek, M.M. (Marcel), Leferink, M. (Maike), Hofste, T. (Tom), Engelen, B.G.M. (Baziel) van, Wevers, R.A. (Ron), Arthur, T. (Todd), Bahi-Buisson, N. (Nadia), Ballhausen, D. (Diana), Bekhof, J. (Jolita), Bogaert, P. (Patrick) van, Carrilho, I. (Inês), Chabrol, B. (Brigitte), Champion, M.P. (Michael), Coldwell, J. (James), Clayton, P. (Peter), Donner, E. (Elizabeth), Evangeliou, A. (Athanasios), Ebinger, F. (Friedrich), Farrell, K. (Kevin), Forsyth, R.J. (Rob), Goede, C.G.E.L. (Christian) de, Gross, S. (Stephanie), Grünewald, S. (Sonja), Holthausen, H. (Hans), Jayawant, S. (Sandeep), Lachlan, K. (Katherine), Laugel, V. (Vincent), Leppig, K. (Kathy), Lim, M.J. (Ming), Mancini, G.M.S. (Grazia), Marina, A.D., Martorell, L. (Loreto), McMenamin, J. (Joe), Meuwissen, M.E.C. (Marije), Mundy, H. (Helen), Nilsson, N.O. (Nils), Panzer, A. (Axel), Poll-The, B.T., Rauscher, C. (Christian), Rouselle, C.M.R. (Christophe), Sandvig, I. (Inger), Scheffner, T. (Thomas), Sheridan, E. (Eamonn), Simpson, N. (Neil), Sykora, P. (Parol), Tomlinson, R. (Richard), Trounce, J. (John), Webb, D.W.M. (David), Weschke, B. (Bernhard), Scheffer, H. (Hans), Willemsen, M.A. (Michél)
المصدر: Brain: a journal of neurology vol. 133 no. 3, pp. 655-670
مصطلحات موضوعية: Cerebrospinal fluid, GLUT1 deficiency syndrome, Ketogenic diet, Phenotype, SLC2A1 gene
Relation: http://repub.eur.nl/pub/27314; urn:hdl:1765/27314
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13Academic Journal
المؤلفون: Wong, A., Burford, S., Wyles, C.L., Mundy, H., Sainsbury, R.
المصدر: The Journal of nutrition, health and aging ; volume 12, issue 5, page 309-312 ; ISSN 1279-7707
الاتاحة: http://dx.doi.org/10.1007/bf02982660
http://link.springer.com/content/pdf/10.1007/BF02982660.pdf
http://link.springer.com/article/10.1007/BF02982660/fulltext.html
https://api.elsevier.com/content/article/PII:S1279770723020201?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1279770723020201?httpAccept=text/plain
http://link.springer.com/content/pdf/10.1007/BF02982660 -
14Academic Journal
المؤلفون: David Leisawitz A, Charles Baker A, Amy Barger B, Dominic Benford A, Andrew Blain C, Rob Boyle A, Richard Broderick A, Jason Budinoff A, John Carpenter C, Richard Caverly A, Phil Chen A, Steve Cooley A, Christine Cottingham D, Julie Crooke A, Dave Dipietro A, Mike Dipirro A, Michael Femiano A, Art Ferrer A, Jacqueline Fischer E, Jonathan P. Gardner A, Lou Hallock A, Kenny Harris A, Kate Hartman A, Martin Harwit F, Lynne Hillenbr, Drew Jones A, Jim Kellogg A, Alan Kogut A, Marc Kuchner A, Bill Lawson A, Javier Lecha A, Maria Lecha A, Amy Mainzer G, Jim Mannion A, Anthony Martino A, Paul Mason A, John Mather A, Gibran Mcdonald A, Rick Mills A, Lee Mundy H, Stan Ollendorf A, Joe Pellicciotti A, Dave Quinn A, Kirk Rhee A, Stephen Rinehart A, Tim Sauerwine A, Robert Silverberg A, Terry Smith A, Gordon Stacey F, H. Philip Stahl I, Johannes Staguhn J, Steve Tompkins A, June Tveekrem A, Sheila Wall A, Mark Wilson A
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.503.1331; http://astrophysics.gsfc.nasa.gov/cosmology/spirit/mission_papers/1.SPIRIT_misision_overview_COSPAR06.pdf
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15Academic Journal
المؤلفون: Witsch-Baumgartner, M, Ciara, E, Löffler, J, Menzel, HJ, Seedorf, U, Burn, J, Gillessen-Kaesbach, G, Hoffmann, GF, Fitzky, BU, Mundy, H, Clayton, P, Kelley, RI, Krajewska-Walasek, M, Utermann, G
المصدر: European Journal of Human Genetics ; volume 9, issue 1, page 45-50 ; ISSN 1018-4813 1476-5438
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16Academic Journal
المؤلفون: Huemer, M., Diodato, D., Martinelli, D., Olivieri, G., Blom, H., Gleich, F., Kölker, S., Kožich, V., Morris, A.A., Seifert, B., Froese, D.S., Baumgartner, M.R., Dionisi-Vici, C., Martin, C.A., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K.A., Couce, M.L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M.C., García Silva, M.T., Gaspar, A.M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, MCH, Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A.M., Martins, E.G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M.A., Santra, S., Schiff, M., Schwartz, I.V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-Adams, J.
المساهمون: EHOD consortium
المصدر: Journal of inherited metabolic disease, vol. 42, no. 2, pp. 333-352
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Amino Acid Metabolism, Inborn Errors/diagnosis, Inborn Errors/therapy, Child, Preschool, Cross-Sectional Studies, Disease Progression, Europe, Female, Homocystinuria/metabolism, Humans, Infant, Newborn, Male, Methylation, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/metabolism, Methylmalonic Acid/urine, Muscle Spasticity/metabolism, Phenotype, Pregnancy, Psychotic Disorders/metabolism, Registries, Retrospective Studies, Vitamin B 12/metabolism, Young Adult
Relation: info:eu-repo/semantics/altIdentifier/pmid/30773687; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; https://serval.unil.ch/notice/serval:BIB_D06F42D28EF4
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17Academic Journal
المؤلفون: Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, FC, Jacquemont, ML, Koeberl, DD, Lion-Francois, L, Lund, AM, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, de Villemeur, TB, Williams, Monique, Salomons, GS, Mercimek-Andrews, S
المصدر: Khaikin , Y , Sidky , S , Abdenur , J , Anastasi , A , Ballhausen , D , Buoni , S , Chan , A , Cheillan , D , Dorison , N , Goldenberg , A , Goldstein , J , Hofstede , FC , Jacquemont , ML , Koeberl , DD , Lion-Francois , L , Lund , AM , Mention , K , Mundy , H , O'Rourke , D , Pitelet , G , Raspall-Chaure , M , Tassini , M , de Villemeur , TB , Williams , M , Salomons , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01
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18Academic Journal
المؤلفون: Ng, Y.S., Lax, N.Z., Maddison, P., Alston, C.L., Blakely, E.L., Hepplewhite, P.D., Riordan, G., Meldau, S., Chinnery, P.F., Pierre, G., Chronopoulou, E., Du, A., Hughes, I., Morris, A.A., Kamakari, S., Chrousos, G., Rodenburg, R.J.T., Saris, C.G.J., Feeney, C., Hardy, S.A., Sakakibara, T., Sudo, A., Okazaki, Y., Murayama, K., Mundy, H., Hanna, M.G., Ohtake, A., Schaefer, A.M., Champion, M.P., Turnbull, D.M., Taylor, R.W., Pitceathly, R.D.S., McFarland, R., Gorman, G.S.
المصدر: Ebiomedicine, 30, pp. 86-93
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/191175/191175.pdf; http://hdl.handle.net/2066/191175; https://doi.org/10.1016/j.ebiom.2018.02.010
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19Academic Journal
المؤلفون: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi-vici, Carlo, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-adams, J.
المصدر: Huemer , M , Diodato , D , Martinelli , D , Olivieri , G , Blom , H , Gleich , F , Kölker , S , Kožich , V , Morris , A A , Seifert , B , Froese , D S , Baumgartner , M R , Dionisi-vici , C , Alcalde Martin , C , Baethmann , M , Ballhausen , D , Blasco-alonso , J , Boy , N , Bueno , M , Burgos Peláez , R , Cerone , R , Chabrol , B , Chapman , K A , Couce ....
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