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

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/e08df0a789ed4de9ad5e32b318cf89af

المؤلفون: Monika Pohorecka, Marcin Biernacki, Anna Jakubowska-Winecka, Kinga Leszczynska-Iwanicka, Dariusz Rokicki, Paulina Pokora, Barbara Perkowska, Magdalena Pajdowska, Marta Biernacka

المصدر: Pediatric Endocrinology, Diabetes and Metabolism, Vol 30, Iss 1, Pp 8-13 (2024)

مصطلحات موضوعية: tyrosinaemia type 1, emotional and behavioural functioning, phenylalanine., Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Emotional-and-behavioural-functioning-in-children-with-tyrosinaemia-type-1,138,53926,1,1.html; https://doaj.org/toc/2081-237X; https://doaj.org/toc/2083-8441

URL الوصول: https://doaj.org/article/fcc25c85b5194267871e5e093f4d13cd

المؤلفون: Bärhold, Friederike, Meyer, Uta, Neugebauer, Anne-Kathrin, Thimme, Eva Maria, Lier, Dinah, Rosenbaum-Fabian, Stefanie, Och, Ulrike, Fekete, Anna, Möslinger, Dorothea, Rohde, Carmen, Beblo, Skadi, Hochuli, Michel, Bogovic, Nina, Korpel, Vanessa, Dahl, Stephan Vom, Mayorandan, Sebene, Fischer, Aleksandra, Freisinger, Peter, Dokoupil, Katharina, Heddrich-Ellerbrok, Margret, Jörg-Streller, Monika, van Teeffelen-Heithoff, Agnes, Lahl, Janina, Das, Anibh Martin

مصطلحات موضوعية: article, ddc:610, Tyrosine, Phenylalanine, Compliance, Low protein diet, Inborn Error Of Metabolism, Hepatorenal Tyrosinaemia, Tyrosinaemia Type 1

Relation: Nutrients -- http://www.mdpi.com/journal/nutrients -- https://www.ncbi.nlm.nih.gov/pmc/journals/1692/ -- http://www.bibliothek.uni-regensburg.de/ezeit/?2518386 -- 2072-6643; https://doi.org/10.3390/nu13010134; https://europepmc.org/articles/PMC7824011

الاتاحة: https://doi.org/10.3390/nu13010134
https://mhh-publikationsserver.gbv.de/receive/mhh_mods_00001785
https://mhh-publikationsserver.gbv.de/servlets/MCRFileNodeServlet/mhh_derivate_00001745/nutrients-13-00134_a.pdf
https://europepmc.org/articles/PMC7824011

المؤلفون: Stewart, Ashleigh

المصدر: Press (Christchurch, N.Z.), 11 Sep 2015; p.A4

المؤلفون: Vanden Eijnden, Serge, Blum, Denise, Clercx, Anne, Goyens, Philippe, De Laet, Corinne, Vamos, Eszter

المصدر: European journal of pediatrics, 159 (7

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Bronze baby syndrome, NTBC, Photosensitivity, Porphyria, Tyrosinaemia type 1

وصف الملف: No full-text files

Relation: uri/info:scp/0033919514; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/128150

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/128150

المؤلفون: Nardiello N., Ana, Salgado B., Amparo, Bravo, Paulina

المصدر: Revista chilena de pediatría, Volume: 73, Issue: 6, Pages: 590-594, Published: NOV 2002

مصطلحات موضوعية: clinical features, diagnosis, Tirosina, Nefrocalcinosis, Tipo I, tyrosinaemia type 1, Tirosinemia

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______614::ff8e90dbc14375765ede7907c7f82bb4
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062002000600005&lng=en&tlng=en