المؤلفون: Erbs, Emilie, Brasen, Claus Lohman, Lund, Allan Meldgaard, Rasmussen, Maria

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

المؤلفون: Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming

المصدر: Molecular Genetics and Metabolism Reports ; volume 15, page 6-10 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2017.11.004Test
https://api.elsevier.com/content/article/PII:S2214426917301507?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426917301507?httpAccept=text/plainTest

المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, Ješina, 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: CHU Pontchaillou [Rennes], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Heidelberg University Hospital [Heidelberg], Service de Pédiatrie Médicale [Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Université Catholique de Louvain = Catholic University of Louvain (UCL), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hospital Universitario Virgen del Rocío [Sevilla], Children’s National Health System [Washington, DC, USA], National Taiwan University [Taiwan] (NTU), University Children’s Hospital Zurich, Charles University [Prague] (CU), Radboud University Medical Center [Nijmegen], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Copenhagen University Hospital, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Manchester University NHS Foundation Trust (MFT), Hospital Universitario N.S. de Candelaria [Santa Cruz de Tenerife, Spain], Hôpital Robert Debré Paris, Hôpital Robert Debré, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), European Union [739543], EU-project phase [2012 12 02], SOBI, Recordati Rare Disease Foundation, Aeglea, Jonchère, Laurent

المصدر: E-HOD Consortium 2022, ' Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 848-861 . https://doi.org/10.1002/jimd.12504Test
Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861
Journal of Inherited Metabolic Disease, 45, 848-861
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2022, 45 (4), pp.848-861. ⟨10.1002/jimd.12504⟩

مصطلحات موضوعية: newborn screening, [SDV]Life Sciences [q-bio], MTHFR deficiency, Infant, Newborn, neurodevelopmental outcome, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], digestive system diseases, [SDV] Life Sciences [q-bio], Cohort Studies, homocystinuria, Psychotic Disorders, EHOD, Muscle Spasticity, Genetics, Humans, remethylation defects, Homocystinuria, Homocysteine, Genetics (clinical), Methylenetetrahydrofolate Reductase (NADPH2), Retrospective Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61173ef96f9f07f5f30d6f4fb81d71a6Test
https://curis.ku.dk/portal/da/publications/influence-of-early-identification-and-therapy-on-longterm-outcomes-in-earlyonset-mthfr-deficiencyTest(b3435036-b5fd-4bc6-b6bd-7b40b0aedc20).html

المؤلفون: Mamsen, Linn Salto, Kelsey, Thomas W., Ernst, Erik, Macklon, Kirsten Tryde, Lund, Allan Meldgaard, Andersen, Claus Yding

المساهمون: Novo Nordisk UK Research Foundation, EU interregional project ReproUnion

المصدر: Journal of Assisted Reproduction and Genetics ; volume 35, issue 7, page 1209-1217 ; ISSN 1058-0468 1573-7330

مصطلحات موضوعية: Genetics (clinical), Developmental Biology, Obstetrics and Gynecology, Genetics, Reproductive Medicine, General Medicine

الإتاحة: https://doi.org/10.1007/s10815-018-1209-2Test

المؤلفون: Steenhof, Maria, Kibæk, Maria, Larsen, Martin J., Christensen, Mette, Lund, Allan Meldgaard, Brusgaard, Klaus, Hertz, Jens Michael

المصدر: neurogenetics ; volume 19, issue 3, page 145-149 ; ISSN 1364-6745 1364-6753

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s10048-018-0547-7Test

المؤلفون: Borgwardt, Line, Dali, Christine I., Fogh, Jens, Olsen, Klaus Juel, Maansson, Jan-Eric, Beck, Hans Christian, Lund, Allan Meldgaard

المصدر: Molecular Genetics and Metabolism ; volume 105, issue 2, page S21 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2011.11.030Test
https://api.elsevier.com/content/article/PII:S1096719211004471?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719211004471?httpAccept=text/plainTest

المؤلفون: Andresen, Brage Storstein, Lund, Allan Meldgaard, Hougaard, David Michael, Christensen, Ernst, Gahrn, Birthe, Christensen, Mette, Bross, Peter, Vested, Anne, Simonsen, Henrik, Skogstrand, Kristin, Olpin, Simon, Brandt, Niels Jacob, Skovby, Flemming, Nørgaard-Pedersen, Bent, Gregersen, Niels

المصدر: Molecular Genetics and Metabolism ; volume 106, issue 2, page 175-188 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.03.018Test
https://api.elsevier.com/content/article/PII:S1096719212001199?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719212001199?httpAccept=text/plainTest

المؤلفون: Lund, Allan Meldgaard, Hougaard, David Michael, Simonsen, Henrik, Andresen, Brage Storstein, Christensen, Mette, Dunø, Morten, Skogstrand, Kristin, Olsen, Rikke K.J., Jensen, Ulrich Glümer, Cohen, Arieh, Larsen, Nanna, Saugmann-Jensen, Peter, Gregersen, Niels, Brandt, Niels Jacob, Christensen, Ernst, Skovby, Flemming, Nørgaard-Pedersen, Bent

المساهمون: Ronald McDonald Børnefond, Danmarks Sundhedsfond, Direktør Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises Børnehospitals Forskningsfond, Læge Sofus Carl Emil Friis og Hustru Olga Doris Friis's Legat, Aase og Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanførefonden, Fonden til Lægevidenskabens Fremme

المصدر: Molecular Genetics and Metabolism ; volume 107, issue 3, page 281-293 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.06.006Test
https://api.elsevier.com/content/article/PII:S1096719212002405?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719212002405?httpAccept=text/plainTest

المؤلفون: Eiberg, Hans, Lund, Allan Meldgaard, Warburg, Mette, Rosenberg, Thomas

المصدر: Human Genetics ; volume 96, issue 1, page 33-38 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/bf00214183Test