المؤلفون: Latzer IT, Bertoldi M, Blau N, Di Bacco ML, Elsea SH, García-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HCH, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL

المساهمون: Latzer, I, Bertoldi, M, Blau, N, Di Bacco, M, Elsea, S, García-Cazorla, A, Gibson, K, Gropman, A, Hanson, E, Hoffman, C, Jeltsch, K, Juliá-Palacios, N, Knerr, I, Lee, H, Malaspina, P, Mcconnell, A, Opladen, T, Oppebøen, M, Rotenberg, A, Walterfang, M, Wang-Tso, L, Wevers, R, Roullet, J, Pearl, P

مصطلحات موضوعية: GABA, Inherited metabolic disorder, Management, Neurotransmitter, Recommendation, SSADH, Settore BIO/18

Relation: info:eu-repo/semantics/altIdentifier/pmid/38452608; info:eu-repo/semantics/altIdentifier/wos/WOS:001250886900001; volume:142; issue:1; numberofpages:13; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/2108/365144; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187407383

الاتاحة: https://hdl.handle.net/2108/365144
https://doi.org/10.1016/j.ymgme.2024.108363

المؤلفون: Katler, Q, Stepien, K, Paull, N, Patel, S, Adams, M, Balci, M, Berry, G, Bosch, A, DeLaO, A, Demirbas, D, Edman, J, Ficicioglu, C, Goff, M, Hacker, S, Knerr, I, Lancaster, K, Li, H, Mendelsohn, B, Nichols, B, Rezende Pinto, W, César Rocha, J, Rubio‐Gozalbo, ME, Saad‐Naguib, M, Scholl‐Buergi, S, Searcy, S, Souza, P, Wittenauer, A, Fridovich‐Keil, J

مصطلحات موضوعية: HCC END, Humans, Female, Alleles, Galactose, Galactosemias* / diagnosis, Galactosemias* / genetics, Homozygote, Infant, Newborn, UTP-Hexose-1-Phosphate Uridylyltransferase / genetics

Relation: J Inherit Metab Dis . 2022 Nov;45(6):1106-1117.; http://hdl.handle.net/10400.17/4715

الاتاحة: http://hdl.handle.net/10400.17/4715
https://doi.org/10.1002/jimd.12556

المؤلفون: Molloy, B., Jones, E. R., Linhares, N. D., Buckley, P. G., Leahy, T. R., Lynch, B., Knerr, I., King, M. D., Gorman, K. M.

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.945296
https://www.frontiersin.org/articles/10.3389/fgene.2022.945296/full

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: 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: Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., Gennarino, V.A.

المصدر: Journal of Clinical Investigation; 0021-9738; 10; 133; e165019; ~Journal of Clinical Investigation~~~~~0021-9738~10~133~~e165019

URL: https://repository.ubn.ru.nl/handle/2066/292866

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: 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, François, Forga, M.T., Grunewald, S., Haberle, J., Hochuli, M., Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y.E., Langendonk, J.G., Moeslinger, D., Mueller-Wieland, D., Murphy, E., Ounap, 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: 1750-1172 ; Orphanet journal of rare diseases

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000466906200001

الاتاحة: https://hdl.handle.net/10067/1812500151162165141
https://repository.uantwerpen.be/docstore/d:irua:8253

المؤلفون: Giva, S, Finnegan, J, Ihidero, P, Maguire, G, Power, B, Knerr, I, Monavari, A

مصطلحات موضوعية: BLOOD DISORDERS, METABOLIC DISORDERS, INFANTS

Relation: http://hdl.handle.net/10147/624086; Irish Medical Journal

الاتاحة: http://hdl.handle.net/10147/624086

المؤلفون: Knerr, I., Blessing, H., Seyferth, S., Watling, R.J., Chaudhri, M.A.

المصدر: Annals of Nutrition & Metabolism, 2013 Jan 01. 63(1/2), 168-173.

URL الوصول: https://www.jstor.org/stable/48514206

المؤلفون: Forman, E. B., Lynch, S. A., Knerr, I., Monavari, A., Hughes, J., Boruah, R., Green, A., Crushell, E.

المصدر: European Journal of Pediatrics ; volume 182, issue 1, page 31-40 ; ISSN 1432-1076

الاتاحة: http://dx.doi.org/10.1007/s00431-022-04697-0
https://link.springer.com/content/pdf/10.1007/s00431-022-04697-0.pdf
https://link.springer.com/article/10.1007/s00431-022-04697-0/fulltext.html

المؤلفون: Weigel, C., Kiener, C., Meier, N., Schmid, P., Rauh, M., Rascher, W., Knerr, I.

المصدر: Annals of Nutrition & Metabolism, 2008 Jan 01. 53(2), 91-95.

URL الوصول: https://www.jstor.org/stable/48507761

المؤلفون: Weigel, C., Rauh, M., Kiener, C., Rascher, W., Knerr, I.

المصدر: Annals of Nutrition & Metabolism, 2007 Jan 01. 51(4), 352-358.

URL الوصول: https://www.jstor.org/stable/48507430

المؤلفون: Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E, Taylor, RW

Relation: pii: jmedgenet-2015-103576; Alston, C. L., Howard, C., Olahova, M., Hardy, S. A., He, L., Murray, P. G., O'Sullivan, S., Doherty, G., Shield, J. P. H., Hargreaves, I. P., Monavari, A. A., Knerr, I., McCarthy, P., Morris, A. A. M., Thorburn, D. R., Prokisch, H., Clayton, P. E., McFarland, R., Hughes, J. ,. Taylor, R. W. (2016). A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. JOURNAL OF MEDICAL GENETICS, 53 (9), pp.634-641. https://doi.org/10.1136/jmedgenet-2015-103576.; http://hdl.handle.net/11343/259277

الاتاحة: http://hdl.handle.net/11343/259277

المؤلفون: Knerr, I., Gröschl, M., Rascher, W., Rauh, M.

المصدر: Annals of Nutrition & Metabolism, 2003 Jan 01. 47(6), 312-318.

URL الوصول: https://www.jstor.org/stable/48508439

المؤلفون: Forman, E. B., Lynch, S. A., Knerr, I., Monavari, A., Hughes, J., Boruah, R., Green, A., Crushell, E.

المصدر: European Journal of Pediatrics; Jan2023, Vol. 182 Issue 1, p31-40, 10p, 4 Charts

مصطلحات موضوعية: IRISH Travellers (Nomadic people), METABOLISM, CONSANGUINITY, METABOLIC disorders

مصطلحات جغرافية: IRELAND

المؤلفون: Juhlke, T.R., Van Geldern, R., Barth, J.A.C., Bendix, J., Bräuning, A., Garel, E., Häusser, M., Huneau, F., Knerr, I., Santoni, S., Szymczak, S., Trachte, K.

المساهمون: Friedrich-Alexander-Universität Erlangen-Nürnberg, Deutsche Forschungsgemeinschaft, Eidgenössische Technische Hochschule Zürich

المصدر: Science of The Total Environment ; volume 755, page 142539 ; ISSN 0048-9697

الاتاحة: http://dx.doi.org/10.1016/j.scitotenv.2020.142539
https://api.elsevier.com/content/article/PII:S004896972036068X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S004896972036068X?httpAccept=text/plain

المؤلفون: Grünert, S.C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O.A., Baumgartner, M.R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J.B., Steinfeld, R., Beblo, S., Koch, H.G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J.P., Superti-Furga, A., Schwab, K.O., Sass, J.O.

المصدر: Orphanet Journal of Rare Diseases, vol. 8, no. 1, pp. 6

مصطلحات موضوعية: Adolescent, Child, Preschool, Cognition, Female, Humans, Infant, Intellectual Disability, Male, Propionic Acidemia/pathology, Propionic Acidemia/psychology, Psychomotor Performance, Quality of Life, Retrospective Studies, Treatment Outcome

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/23305374; info:eu-repo/semantics/altIdentifier/eissn/1750-1172; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_FFEF740BDFE11; https://serval.unil.ch/notice/serval:BIB_FFEF740BDFE1; https://serval.unil.ch/resource/serval:BIB_FFEF740BDFE1.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_FFEF740BDFE1
https://doi.org/10.1186/1750-1172-8-6
https://serval.unil.ch/resource/serval:BIB_FFEF740BDFE1.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FFEF740BDFE11

المؤلفون: Pearl, P.L., Gibson, K.M., Cortez, M.A., Wu, Y., Snead, O.C., Knerr, I., Forester, K., Pettiford, J.M., Jakobs, C.A.J., Theodore, W.H.

المصدر: Pearl , P L , Gibson , K M , Cortez , M A , Wu , Y , Snead , O C , Knerr , I , Forester , K , Pettiford , J M , Jakobs , C A J & Theodore , W H 2009 , ' Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men ' , Journal of Inherited Metabolic Disease , vol. 32 , no. 3 , pp. 343-352 . https://doi.org/10.1007/s10545-009-1034-y

وصف الملف: application/pdf

الاتاحة: https://research.vumc.nl/en/publications/b1b2fe65-45ba-4d46-a90f-b96fafb566d8
https://doi.org/10.1007/s10545-009-1034-y
https://research.vumc.nl/ws/files/516778/PMC2693236.pdf