المؤلفون: Kuypers, Allysa M., Bouva, Marelle J., Loeber, J. Gerard, Boelen, Anita, Dekkers, Eugenie, Petritis, Konstantinos, Pickens, C. Austin, van Spronsen, Francjan J., Heiner-Fokkema, M. Rebecca

المصدر: The ISNS Representatives , Kuypers , A M , Bouva , M J , Loeber , J G , Boelen , A , Dekkers , E , Petritis , K , Pickens , C A , van Spronsen , F J & Heiner-Fokkema , M R 2024 , ' Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide ' , International journal of neonatal screening , vol. 10 , no. 4 , 82 . https://doi.org/10.3390/ijns10040082

مصطلحات موضوعية: dried blood spots, inborn metabolic disease, neonatal screening, succinylacetone, tyrosine, tyrosinemia type 1

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/939d9c01-97d1-4196-9d80-176fadcbb629
https://research.rug.nl/en/publications/939d9c01-97d1-4196-9d80-176fadcbb629
https://doi.org/10.3390/ijns10040082
https://pure.rug.nl/ws/files/1189503055/IJNS-10-00082-v3.pdf
http://www.scopus.com/inward/record.url?scp=85213507586&partnerID=8YFLogxK

المؤلفون: Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 17 (2024)

مصطلحات موضوعية: newborn screening, tyrosinemia type I, succinylacetone, maleylacetoacetate isomerase deficiency, GSTZ1, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2409-515X/10/1/17; https://doaj.org/toc/2409-515X; https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4

الاتاحة: https://doi.org/10.3390/ijns10010017
https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4

المؤلفون: Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 255-261 (2024)

مصطلحات موضوعية: 4‐oxo 6‐hydroxyhepanoate, emerging diagnostic biomarker, fumarylacetoacetate hydrolase, succinylacetone, tyrosinaemia type 1, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

Relation: https://doi.org/10.1002/jmd2.12436; https://doaj.org/toc/2192-8312; https://doaj.org/article/e08df0a789ed4de9ad5e32b318cf89af

الاتاحة: https://doi.org/10.1002/jmd2.12436
https://doaj.org/article/e08df0a789ed4de9ad5e32b318cf89af

المؤلفون: Das, A.M., Ballhausen, D., Haas, D., Häberle, J., Hagedorn, T., Janson-Mutsaerts, C., Janzen, N., Sander, J., Freisinger, P., Karall, D., Meyer, U., Mönch, E., Morlot, S., Rosenbaum-Fabian, S., Scholl-Bürgi, S., Vom Dahl, S., Weinhold, N., Zeman, J., Lange, K.

المصدر: Journal of inherited metabolic disease, vol. 48, no. 1, pp. e12824

مصطلحات موضوعية: Humans, Tyrosinemias/diagnosis, Tyrosinemias/therapy, Cyclohexanones/therapeutic use, Nitrobenzoates/therapeutic use, Neonatal Screening/methods, Infant, Newborn, Diet, Protein-Restricted, Consensus, Liver Transplantation, Germany, Heptanoates, hepatorenal tyrosinaemia, newborn screening, nitisinone, succinylacetone, tyrosine

Relation: info:eu-repo/semantics/altIdentifier/pmid/39676394; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; https://serval.unil.ch/notice/serval:BIB_7C7E8774B325

الاتاحة: https://serval.unil.ch/notice/serval:BIB_7C7E8774B325
https://doi.org/10.1002/jimd.12824

المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.

المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg

مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449680

الاتاحة: https://dspace.library.uu.nl/handle/1874/449680

المؤلفون: Juyoung Kim, Jaekwon Lee, Moon-Suhn Ryu

المصدر: Nutrients; Volume 15; Issue 2; Pages: 281

مصطلحات موضوعية: zinc, iron deficiency, terminal erythroid differentiation, protoporphyrin, succinylacetone, hemoglobin, anemia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Micronutrients and Human Health; https://dx.doi.org/10.3390/nu15020281

الاتاحة: https://doi.org/10.3390/nu15020281

المؤلفون: Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 66 (2023)

مصطلحات موضوعية: tyrosinemia type 1, succinylacetone, cirrhosis, hepatocellular carcinoma, newborn screening, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2409-515X/9/4/66; https://doaj.org/toc/2409-515X; https://doaj.org/article/33564cba8f9b4f748a659a786b91d03e

الاتاحة: https://doi.org/10.3390/ijns9040066
https://doaj.org/article/33564cba8f9b4f748a659a786b91d03e

المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.

المصدر: van Vliet , K , Dijkstra , A M , Bouva , M J , van der Krogt , J , Bijsterveld , K , van der Sluijs , F , de Sain-van der Velden , M G , Koop , K , Rossi , A , Thomas , J A , Patera , C A , Kiewiet , M B G , Waters , P J , Cyr , D , Boelen , A , van Spronsen , F J & Heiner-Fokkema , M R 2023 , ' Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency : ....

مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/006934b2-e040-419e-b7f5-8add98a90d5c
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5c
https://doi.org/10.1002/jimd.12669
https://pure.rug.nl/ws/files/862911851/J_of_Inher_Metab_Disea_-_2023_-_Vliet_-_Maleic_acid_is_a_biomarker_for_maleylacetoacetate_isomerase_deficiency_.pdf
http://www.scopus.com/inward/record.url?scp=85167591588&partnerID=8YFLogxK

المؤلفون: Šikonja, Jaka, Brecelj, Jernej, Žerjav-Tanšek, Mojca, Repič-Lampret, Barbka, Drole Torkar, Ana, Klemenčič, Simona, Lipovec, Neža, Stefanova Kralj, Valentina, Bertok, Sara, Kovač, Jernej, Faganel Kotnik, Barbara, Tesařová, Markéta, Remec, Žiga Iztok, Debeljak, Maruša, Battelino, Tadej, Grošelj, Urh

المصدر: Molecular genetics and metabolism reports, vol. 30, 100836, 2022. ; ISSN: 2214-4269

مصطلحات موضوعية: tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variant, pediatrija, tirozenemija, presejalno testiranje, info:eu-repo/classification/udc/616-053.2:577.122.5

وصف الملف: application/pdf; text/url

Relation: info:eu-repo/grantAgreement/ARRS//P3-0343; info:eu-repo/grantAgreement/ARRS//J4-3606; info:eu-repo/grantAgreement/ARRS//L3-8213; info:eu-repo/grantAgreement/ARRS//L3-7538; info:eu-repo/grantAgreement/ARRS//P3-0395; https://repozitorij.uni-lj.si/IzpisGradiva.php?id=138896; https://repozitorij.uni-lj.si/Dokument.php?id=159388&dn=; https://repozitorij.uni-lj.si/Dokument.php?id=159387&dn=; https://plus.cobiss.net/cobiss/si/sl/bib/90521859; http://hdl.handle.net/20.500.12556/RUL-138896

الاتاحة: https://repozitorij.uni-lj.si/IzpisGradiva.php?id=138896
https://repozitorij.uni-lj.si/Dokument.php?id=159388&dn=
https://repozitorij.uni-lj.si/Dokument.php?id=159387&dn=
https://plus.cobiss.net/cobiss/si/sl/bib/90521859
https://hdl.handle.net/20.500.12556/RUL-138896

المؤلفون: Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj

المصدر: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100836- (2022)

مصطلحات موضوعية: Tyrosinemia, Fumarylacetoacetate hydrolase, Nitisinone, Dried blood spot, Succinylacetone, Intronic variant, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001312; https://doaj.org/toc/2214-4269; https://doaj.org/article/9f13cc7dddfa42528e11ec36f92ce8fe

الاتاحة: https://doi.org/10.1016/j.ymgmr.2021.100836
https://doaj.org/article/9f13cc7dddfa42528e11ec36f92ce8fe

المؤلفون: Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100933- (2022)

مصطلحات موضوعية: Tyrosinemia type 1, Hepatocellular carcinoma, Neurocognitive outcome, Newborn screening, Succinylacetone, NTBC, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000933; https://doaj.org/toc/2214-4269; https://doaj.org/article/06ee16d9c5f84e49b379a7616bb8c55f

الاتاحة: https://doi.org/10.1016/j.ymgmr.2022.100933
https://doaj.org/article/06ee16d9c5f84e49b379a7616bb8c55f

المؤلفون: Fuenzalida, Karen, Leal Witt, María Jesús, Guerrero, Patricio, Hamilton Viollier, Valerie, Salazar, María Florencia, Peñaloza, Felipe, Arias Pefaur, Carolina, Cornejo Espinoza, Veronica del Carmen

المصدر: Journal of Clinical Medicine

مصطلحات موضوعية: Tyrosinemia type-1, Nitisinone, Succinylacetone, Alpha fetoprotein, Liver biomarkers

وصف الملف: application/pdf

Relation: J. Clin. Med. 2021, 10, 5832; https://repositorio.uchile.cl/handle/2250/184214

الاتاحة: https://doi.org/10.3390/jcm10245832
https://repositorio.uchile.cl/handle/2250/184214

المؤلفون: Prieto-Alamo, Maria Jose, Laval, Francoise

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1998 Oct . 95(21), 12614-12618.

URL الوصول: https://www.jstor.org/stable/46107

المؤلفون: Laeremans, Hilde, Turner, Charles, Andersson, Tommy, Angel Cocho De Juan, Jose, Gerrard, Adam, Rebecca Heiner-Fokkema, M., Herebian, Diran, Janzen, Nils, La Marca, Giancarlo, Rudebeck, Mattias

المصدر: JIMD reports, 53 (1

مصطلحات موضوعية: Généralités, Dried blood spot, Hereditary tyrosinemia type 1, Nitisinone, Succinylacetone, Tandem mass spectrometry

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1002/jmd2.12112; uri/info:scp/85085146164; https://dipot.ulb.ac.be/dspace/bitstream/2013/307497/3/doi_291141.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307497

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307497
https://dipot.ulb.ac.be/dspace/bitstream/2013/307497/3/doi_291141.pdf

المؤلفون: Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 2; Pages: 39

مصطلحات موضوعية: tyrosinemia type I, hereditary tyrosinemia, newborn screening, succinylacetone, Tyrosine

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6020039

الاتاحة: https://doi.org/10.3390/ijns6020039

المؤلفون: Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 90-102 (2020)

مصطلحات موضوعية: dried blood spot, hereditary tyrosinemia type 1, nitisinone, succinylacetone, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

Relation: https://doi.org/10.1002/jmd2.12112; https://doaj.org/toc/2192-8312; https://doaj.org/article/6009c65edbbf49f4820c0f103370be32

الاتاحة: https://doi.org/10.1002/jmd2.12112
https://doaj.org/article/6009c65edbbf49f4820c0f103370be32

المؤلفون: Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Tyrosinemia, Succinylacetone, Liver transplant, Nitisinone, Screening, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-020-01547-w; https://doaj.org/toc/1750-1172; https://doaj.org/article/a72bc7f492cb4404858e8b385f88a51f

الاتاحة: https://doi.org/10.1186/s13023-020-01547-w
https://doaj.org/article/a72bc7f492cb4404858e8b385f88a51f

المؤلفون: Phil Jun Lee, Seung Je Woo, Hee Min Yoo, Namki Cho, Hong Pyo Kim

المصدر: Molecules, Vol 24, Iss 19, p 3575 (2019)

مصطلحات موضوعية: succinylacetone, colon cancer cell lines, apoptosis, atp, oxidative phosphorylation, pyruvate dehydrogenase, Organic chemistry, QD241-441

Relation: https://www.mdpi.com/1420-3049/24/19/3575; https://doaj.org/toc/1420-3049; https://doaj.org/article/c023cc5855f94ee9985bea56a612033a

الاتاحة: https://doi.org/10.3390/molecules24193575
https://doaj.org/article/c023cc5855f94ee9985bea56a612033a

المؤلفون: Kim, Juyoung, Lee, Jaekwon, Ryu, Moon-Suhn

المصدر: Biochemistry -- Faculty Publications

مصطلحات موضوعية: zinc, iron deficiency, terminal erythroid differentiation, protoporphyrin, succinylacetone, hemoglobin, anemia, Biochemistry, Biophysics, and Structural Biology, Biotechnology, Life Sciences, Other Biochemistry

وصف الملف: application/pdf

Relation: https://digitalcommons.unl.edu/biochemfacpub/591; https://digitalcommons.unl.edu/context/biochemfacpub/article/1592/viewcontent/Kim_NUTRIENTS_2023_Cellular_Zinc_Deficiency.pdf

الاتاحة: https://digitalcommons.unl.edu/biochemfacpub/591
https://digitalcommons.unl.edu/context/biochemfacpub/article/1592/viewcontent/Kim_NUTRIENTS_2023_Cellular_Zinc_Deficiency.pdf

المؤلفون: Kienstra, Nienke S, van Reemst, Hannah E, van Ginkel, Willem G, Daly, Anne, van Dam, Esther, MacDonald, Anita, Burgerhof, Johannes G M, de Blaauw, Pim, McKiernan, Patrick J, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J

المصدر: Kienstra , N S , van Reemst , H E , van Ginkel , W G , Daly , A , van Dam , E , MacDonald , A , Burgerhof , J G M , de Blaauw , P , McKiernan , P J , Heiner-Fokkema , M R & van Spronsen , F J 2018 , ' Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day ' , Journal of Inherited Metabolic Disease , vol. 41 , no. 2 , pp. 181-186 . ....

مصطلحات موضوعية: Tyrosinemia type 1, NTBC, Succinylacetone, SA, TANDEM MASS-SPECTROMETRY, HEPATOCELLULAR-CARCINOMA, FUMARYLACETOACETATE, DIOXYGENASE, AFP

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/7b4da453-0d02-433e-9c19-fd1671fcdc36

الاتاحة: https://hdl.handle.net/11370/7b4da453-0d02-433e-9c19-fd1671fcdc36
https://research.rug.nl/en/publications/7b4da453-0d02-433e-9c19-fd1671fcdc36
https://doi.org/10.1007/s10545-017-0112-9
https://pure.rug.nl/ws/files/51646348/10.1007_2Fs10545_017_0112_9.pdf