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1دورية أكاديمية
المؤلفون: Nielsen, Maja Risager, Jørgensen, Christine, Ahring, Kirsten, Lund, Allan Meldgaard, Ørngreen, Mette Cathrine
المصدر: Nielsen , M R , Jørgensen , C , Ahring , K , Lund , A M & Ørngreen , M C 2023 , ' The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria ' , Journal of Inherited Metabolic Disease , vol. 46 , no. 4 , pp. 586-594 . https://doi.org/10.1002/jimd.12600Test
مصطلحات موضوعية: children outcome, follow-up, maternal phenylketonuria, phenylalanine, phenylketonuria, pregnancy
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12600Test
https://curis.ku.dk/portal/da/publications/the-impact-of-phenylalanine-levels-during-pregnancy-on-birth-weight-and-later-development-in-children-born-to-women-with-phenylketonuriaTest(4da61b92-49f4-47f5-9b1d-49dc6c3987c7).html
https://curis.ku.dk/ws/files/362461581/J_of_Inher_Metab_Disea_2023_Nielsen.pdfTest -
2دورية أكاديمية
المؤلفون: Raaschou-Pedersen, Daniel Emil Tadeusz, Madsen, Karen Lindhardt, Løkken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros C.M., Laforêt, Pascal, Lund, Allan Meldgaard Y., van Hall, Gerrit, Vissing, John, Ørngreen, Mette Cathrine
المساهمون: Copenhagen University Hospital, MRC London Institute of Medical Sciences (LMC), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Raymond Poincaré AP-HP, Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), University of Copenhagen = Københavns Universitet (UCPH), Ultragenyx Pharmaceutical, Fonden til Lægevidenskabens Fremme: 17-L-0537, Novo Nordisk Fonden, NNF: NNF170C0027164, This was an investigator-initiated clinical trial. Designed, conducted, and reported independently from Ultragenyx Pharmaceutical Inc. This work was supported by the Novo Nordisk Foundation NNF170C0027164, and the Fonden til Lægevidenskabens Fremme 17- l -0537 .
المصدر: ISSN: 0960-8966 ; Neuromuscular Disorders ; https://hal.science/hal-03673645Test ; Neuromuscular Disorders, 2022, 32 (4), pp.295-304. ⟨10.1016/j.nmd.2022.01.012⟩.
مصطلحات موضوعية: fat and carbohydrate metabolism, Glycogen storage disease, Metabolic Myopathies, Phosphofructokinase deficiency, Triheptanoin, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35241345; hal-03673645; https://hal.science/hal-03673645Test; https://hal.science/hal-03673645/documentTest; https://hal.science/hal-03673645/file/PIIS0960896622000293.pdfTest; PUBMED: 35241345
الإتاحة: https://doi.org/10.1016/j.nmd.2022.01.012Test
https://hal.science/hal-03673645Test
https://hal.science/hal-03673645/documentTest
https://hal.science/hal-03673645/file/PIIS0960896622000293.pdfTest -
3دورية أكاديميةInfluence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, MarÃa, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, JeÅ¡ina, Pavel, Janssen, Mirian C H, Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras-Hurtado, Gloria Liliana, Benoist, Jean-François, Damaj, Léna, Schiff, Manuel, E-HOD Consortium
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire
المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)
مصطلحات موضوعية: Cohort Studies, Homocysteine, Homocystinuria, Humans, Infant, Newborn, Methylenetetrahydrofolate Reductase (NADPH2), Muscle Spasticity, Psychotic Disorders, Retrospective Studies, EHOD, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects
العلاقة: boreal:278995; http://hdl.handle.net/2078.1/278995Test; info:pmid/35460084; urn:ISSN:0141-8955; urn:EISSN:1573-2665
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4دورية أكاديمية
المؤلفون: Borgwardt, Line Gutte, Ceravolo, Ferdinando, Zardi, Giulia, Ballabeni, Andrea, Lund, Allan Meldgaard
المساهمون: Chiesi Farmaceutici
المصدر: JIMD Reports ; volume 64, issue 2, page 187-198 ; ISSN 2192-8312 2192-8312
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5دورية أكاديمية
المؤلفون: Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft
المصدر: Lund , A M , Wibrand , F , Skogstrand , K , Bækvad-Hansen , M , Gregersen , N , Andresen , B S , Hougaard , D M , Dunø , M & Olsen , R K J 2021 , ' Use of molecular genetic analyses in danish routine newborn screening ' , International Journal of Neonatal Screening , vol. 7 , no. 3 , 50 . https://doi.org/10.3390/IJNS7030050Test
مصطلحات موضوعية: First-tier test, Neonatal screening, Newborn screening, Next generation sequencing, Second-tier test, Tandem mass spectrometry
الإتاحة: https://doi.org/10.3390/IJNS7030050Test
https://pure.au.dk/portal/da/publications/use-of-molecular-genetic-analyses-in-danish-routine-newborn-screeningTest(4533c88e-9a70-45dc-9a4f-90104eb2a4c7).html
http://www.scopus.com/inward/record.url?scp=85112709209&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, Van Lingen, Corine, Scarpa, Maurizio, Matthijs, Gert, Nassogne, Marie-Cécile, Debray, François-Guillaume, Roland, Dominique, Chamova, Teodora, Kozich, Viktor, Pavel, Jesina, Zenker, Martin, Lampe, Christina, Das, Anihb Martin, Hennermann, Julia, Kölker, Stefan, Weinhold, Natalie, Mohnike, Klaus, Gruenert, Sarah, Lund, Allan Meldgaard, Morales-Conejo, Montserrat, Del Toro-Riera, Mireia, Aldámiz-Echevarría, Luis, Garcia-Silva, Maria-Teresa, Schiff, Manuel, Gouya, Laurent, De Lonlay, Pascale, Belmatoug, Nadia, Germain, Dominique P., Cano, Aline, Dobbelaere, Dries, Jones, Simon, Dawson, Charlotte, Deegan, Patrick, Santra, Saikat, Vijay, Suresh, Petkovic Ramadza, Danijela, Barić, Ivo, Žigman, Tamara, Pflieger, György, Szakszon, Katalin, Kaposta, Rita, Gasperini, Serena, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Ceccarini, Giovanni, Federico, Antonio, Simonati, Alessandro, Tumienė, Birutė, Huidekoper, Hidde, Van Spronsen, Francian, Bosch, Annet, Rubio-Gozalbo, Maria-Estela, Visser, Gepke, Tangeraas, Trine, Aarsand, Aasne, Kieć-Wilk, Beata, Mendes Gaspar, Ana-Maria Simões, Quelhas, Dulce, Leao-Teles, Elisa, Azevedo, Olga, Rodriges Silva, Esmeralda-Maria Ferreira, De Abreu Freire, Luísa-Maria Diogo Matos, Martins, Esmeralda, Lajic, Svetlana, Darin, Niklas, Groselj, Urh, Tansek, Mojca-Zerjav
المصدر: Orphanet journal of rare diseases., London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]. ; eISSN 1750-1172
مصطلحات موضوعية: access to treatment., European Reference Network., hereditary metabolic diseases., inborn errors of metabolism., orphan medicinal product
وصف الملف: application/pdf
العلاقة: https://epublications.vu.lt/object/elaba:126054473/126054473.pdfTest; https://repository.vu.lt/VU:ELABAPDB126054473&prefLang=en_USTest
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7دورية أكاديمية
المؤلفون: Ifversen, Marianne Segelcke, Masmas, Tania Nicole, Kornblit, Brian, Rieneck, Klaus, Kaastrup, Eva Kannik, Lund, Allan Meldgaard, Fischer-Nielsen, Anne, Glenthøj, Andreas
المصدر: Ifversen , M S , Masmas , T N , Kornblit , B , Rieneck , K , Kaastrup , E K , Lund , A M , Fischer-Nielsen , A & Glenthøj , A 2020 , ' Behandling af monogene sygdomme ved viral transduktion af hæmatopoietiske stamceller ' , Ugeskrift for Laeger , bind 182 , nr. 46 , V06200458 . < https://ugeskriftet.dk/files/scientific_article_files/2020-11/v0620458_web.pdfTest >
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8دورية أكاديمية
المصدر: Erbs , E , Brasen , C L , Lund , A M & Rasmussen , M 2023 , ' Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics ' , European Journal of Medical Genetics , vol. 66 , no. 3 , 104698 . https://doi.org/10.1016/j.ejmg.2023.104698Test
مصطلحات موضوعية: Congenital NAD deficiency Disorder, NAD, NADSYN1, Congenital malformations, VCRL, Niacinamide, Humans, Male, Musculoskeletal Abnormalities, Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor, Genetics, Medical, Adult, Child, Limb Deformities, Congenital
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/b652c8cb-54d7-4fb9-9f32-83989d38bce4Test
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104698Test
https://portal.findresearcher.sdu.dk/da/publications/b652c8cb-54d7-4fb9-9f32-83989d38bce4Test -
9دورية أكاديمية
المؤلفون: Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio, Debray, François-Guillaume, Nassogne, Marie-C. cile, van Coster, Rudy, de Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, de Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo-Dionisi, di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, van der Ploeg, Ans, Rubio-Gozalbo, Maria-Estela, van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata, Gaspar, Ana-Maria Simões Mendes, Martins, Esmeralda, Silva, Esmeralda-Maria Ferreira Rodrigues, de Abreu Freire Diogo Matos, Luísa-Maria, Azevedo, Olga, Tansek, Mojca-Zerjav, Couce-Pico, Maria-Luz, Cazorla, Angeles Garcia, Azuara, Luis Aldámiz-Echevarría, del Toro-Riera, Mireia, Lajic, Svetlana, Darin, Niklas, Deegan, Patrick, Vijaym, Suresh, Chronopoulou, Efstathia, Jones, Simon, Chakrapani, Anupanm, Hiwot, Tarekegn
المصدر: Heard , J-M , Bellettato , C , van Lingen , C , Scarpa , M , Debray , F-G , Nassogne , M-C C , van Coster , R , de Meirleir , L , Eyskens , F , Morava , E , Baric , I , Kozich , V , Lund , A M , Germain , D , Belmatoug , N , Guffon , N , Labrune , P , Gouya , L , de Lonlay , P , Schiff , M , Dobbelaere , D , Chabrol , B , Das , A M , ....
الإتاحة: https://doi.org/10.1186/s13023-019-1091-8Test
https://research.vumc.nl/en/publications/d09f6c3e-0b05-4368-b399-0d0df589fe5cTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066922947&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/31142374Test -
10دورية أكاديمية
المؤلفون: Heard, Jean Michel, Bellettato, Cinzia, Van Lingen, Corine, Scarpa, Maurizio, Debray, François Guillaume, Nassogne, Marie Cécile, Van Coster, Rudy, De Meirleir, Linda, Eyskens, François, Morava, Eva, Baric, Ivo, Kozich, Viktor, Lund, Allan Meldgaard, Germain, Dominique, Belmatoug, Nadia, Guffon, Nathalie, Labrune, Philippe, Gouya, Laurent, De Lonlay, Pascale, Schiff, Manuel, Dobbelaere, Dries, Chabrol, Brigitte, Das, Anihb Martin, Spiekerkoetter, Ute, Rutsch, Frank, Ploeckinger, Ursula, Mohnike, Klaus, Hahn, Andreas, Kölker, Stefan, Ullrich, Kurt, Balogh, István, Bembi, Bruno, Donati, Maria Alice, Gasperini, Serena, Parenti, Giancarlo, Salviati, Alessandro, Vici, Carlo Dionisi, Di Rocco, Maja, Cefalo, Graziella, Burlina, Alberto, Ceccarini, Giovanni, Federico, Antonio, Van Der Ploeg, Ans, Rubio-Gozalbo, Maria Estela, Van Spronsen, Francian, Visser, Gepke, Bosch, Annet, Tangeraas, Trine, Sanderberg, Sverre, Kieć-Wilk, Beata
المساهمون: Metabole ziekten patientenzorg
مصطلحات موضوعية: Europe, Humans, Interdisciplinary Research/methods, Quality of Life, Surveys and Questionnaires, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: image/pdf
النص الكامل