-
1
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
instnameمصطلحات 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 -
2
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
instname
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, 12مصطلحات 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
-
3
المؤلفون: Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Ángels García-Cazorla, Dionisi-Vici, Carlo, Kölker, Stefan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::695230857e346bbc233d599ba52b722e
-
4
المؤلفون: Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., H. Serap Sivri, Yilmaz Yildiz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, Angeles García-Cazorla, Tomáš Honzík, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, 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, Hübschmann, Oya Kuseyri
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c96b514e67b96bd1ac7343d39e0ed3
-
5
المؤلفون: Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, Opladen, Thomas
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d550170c541d50b42f9da1615cd37f7
-
6
المؤلفون: Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, Opladen, Thomas
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77986b8925672865646bd78305424cbc
-
7
المؤلفون: Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, Opladen, Thomas
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e72e9ca7ee57b79a2144ec431c1bc6b
-
8
المؤلفون: Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
المساهمون: University of Zurich, Opladen, Thomas, Pediatrics
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 12, 1, pp. 12
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 12, 12مصطلحات موضوعية: sign, Aromatic l-amino acid decarboxylase deficiency, Review, aromatic l-amino acid decarboxylase deficiency, Cholinergic Antagonists, Pyridoxal Phosphate/therapeutic use, 610 Medical sciences Medicine, infantile dystonia-parkinsonism, AADC deficiency, 2736 Pharmacology (medical), Genetics(clinical), Age of Onset, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Serotonin, Medicine(all), grade, Dopamine Agonists/therapeutic use, Neurotransmitter, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Amino Acid Metabolism, Inborn Errors/blood, serotonin, Prolactin/blood, Aromatic-L-Amino-Acid Decarboxylases, Pyridoxal Phosphate, Dopamine Agonists, dopamine, guideline, neurotransmitter, 2716 Genetics (clinical), Monoamine Oxidase Inhibitors, GRADE, Guidelines as Topic, 610 Medicine & health, Dopamine, genetics (clinical), Humans, SIGN, medicine (all), pharmacology (medical), Amino Acid Metabolism, Inborn Errors, Cholinergic Antagonists/therapeutic use, Infantile dystonia-parkinsonism, Aromatic-L-Amino-Acid Decarboxylases/blood, Guideline, Prolactin, 10036 Medical Clinic, Monoamine Oxidase Inhibitors/therapeutic use
وصف الملف: Zora.pdf - application/pdf; application/pdf
إعادة تعيين المنقحات
عرض المنقحات (%%عد%%)