المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المصدر: In Molecular Genetics and Metabolism July 2023 139(3)

المؤلفون: Shetty, Aakash, Gan-Or, Ziv, Ashtiani, Setareh, Ruskey, Jennifer A., van de Warrenburg, Bart, Wassenberg, Tessa, Kamsteeg, Erik-Jan, Rouleau, Guy A., Suchowersky, Oksana

المصدر: In European Journal of Medical Genetics December 2019 62(12)

المؤلفون: Wassenberg, Tessa, Willemsen, Michèl, Dijkman, Henry, Deinum, Jaap, Monnens, Leo

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. July 2017 32(7):1171-1174

المؤلفون: Wassenberg, Tessa^Aff2, Monnens, Leo A. H.^Aff4, Geurtz, Ben P. B. H.^Aff3, Wevers, Ron A.^Aff3, Verbeek, Marcel M.^{Aff2, Aff3}, Willemsen, Michèl A. A. P.^Aff5

المساهمون: c/o ACB

المصدر: JIMD Reports - Case and Research Reports, 2012/1. 4:39-45

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المؤلفون: Wassenberg, Tessa, Willemsen, Michèl, Dijkman, Henry, Deinum, Jaap, Monnens, Leo

المصدر: Pediatric Nephrology: Journal of the InternationalPediatric Nephrology Association. July 2017 32(7):1169-1170

المؤلفون: Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angels, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, R., Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya, Universitat Autònoma de Barcelona

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: BH4, Tetrahydrobiopterin deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, CDihydropteridine reductase deficiency, 6-pyruvoyltetrahydropterin synthase deficiency, Dihydropteridine reductase deficiency, Neurotransmitter, INTD, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, Consensus guidelines, SIGN

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1fbcd11572781dcb0e21214e41bd5fa6
https://hdl.handle.net/2072/445695

المؤلفون: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas

المساهمون: Clinical sciences, Pediatrics, Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, National Center for Tumor Diseases (Germany)

المصدر: Nature Communications, 12, 1
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Digital.CSIC. Repositorio Institucional del CSIC
Nature Communications
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Nature Communications, 12

مصطلحات موضوعية: Biogenic Amines, Movement disorders, Child, preschool, Science, Metabolic disorders, General Physics and Astronomy, Congenital microcephaly, Paediatric research, Bioinformatics, Article, General Biochemistry, Genetics and Molecular Biology, neurotransmitter disorders, dopamine, children, Pregnancy, Biogenic Amines/metabolism, Humans, Medicine, Neurotransmitter metabolism, Global developmental delay, Multidisciplinary, business.industry, Confounding, Genetic Diseases, Inborn, Infant, Newborn, Infant, General Chemistry, International working group, Delivery, Obstetric, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Paediatric neurological disorders, Child, Preschool, Genetic Diseases, Inborn/diagnosis, Small for gestational age, Female, pregnancy, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243b56cdc4b72b758077eb20dd9513ed
https://repository.ubn.ru.nl/handle/2066/238541

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