المؤلفون: Pottel, H, Nyman, U, Bjork, J, Berg, U, Bokenkamp, A, Dubourg, LD, Lemoine, S, Goffin, K, Grubb, A, Hansson, M, Larsson, A, Littmann, K, asling-Monemi, K, Adeli, K, Cavalier, E, Delanaye, P

المصدر: Pediatric nephrology (Berlin, Germany). 39(3):1177-1183

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154038112

المؤلفون: Grosyeux C; Pediatric Nephrology Department, University Hospital of Nancy, Nancy, France., Alla A; Department of Nephrology, University of Lorraine, Nancy, France., Barbé F; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, University Hospital of Nancy, Nancy, France.; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy, France., Dubourg LD; Nephrology, Dialysis, Hypertension and Functional Renal Exploration, Edouard Herriot Hospital, Hospices Civils de Lyon and Université Lyon 1, Lyon, France., Chardon L; Department of Biology and Hormonology, Lyon-Est Hospital, Bron, France., Guéant JL; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, University Hospital of Nancy, Nancy, France.; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy, France.; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Nancy, France., Frimat L; Department of Nephrology, University of Lorraine, Nancy, France.; INSERM CIC-EC CIE6, University of Lorraine, Nancy, France., Oussalah A; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, University Hospital of Nancy, Nancy, France.; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy, France.; INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Nancy, France., Vrillon I; Pediatric Nephrology Department, University Hospital of Nancy, Nancy, France.

المصدر: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 May 27. Date of Electronic Publication: 2024 May 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE

المؤلفون: Pautonnier J; Hospices Civils de Lyon, Pôle Santé Publique, Service de Biostatistique et Bioinformatique, F-69003, Lyon, France. pautonnier.joanna@gmail.com.; CNRS, UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, F-69100, Villeurbanne, France. pautonnier.joanna@gmail.com.; Universite Claude Bernard Lyon 1, F-69100, Villeurbanne, France. pautonnier.joanna@gmail.com., Goutte S; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Génétique, Bron, France., Dubourg LD; Universite Claude Bernard Lyon 1, F-69100, Villeurbanne, France.; CNRS UMR 5305, Lyon, France.; Hospices Civils de Lyon, Hôpital E. Herriot, Service de Néphrologie, Dialyse, Hypertension et Exploration Fonctionnelle Rénale, F-69003, Lyon, France., Bacchetta J; Universite Claude Bernard Lyon 1, F-69100, Villeurbanne, France.; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France.; Faculté de Médecine Lyon Est, Université de Lyon, Lyon, France.; INSERM, UMR 1033, Faculté de Médecine Lyon Est, Université de Lyon, Lyon, France., Ranchin B; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France., Rabilloud M; Hospices Civils de Lyon, Pôle Santé Publique, Service de Biostatistique et Bioinformatique, F-69003, Lyon, France.; CNRS, UMR 5558, Laboratoire de Biométrie et Biologie Évolutive, Équipe Biostatistique-Santé, F-69100, Villeurbanne, France.; Universite Claude Bernard Lyon 1, F-69100, Villeurbanne, France., Sanlaville D; Universite Claude Bernard Lyon 1, F-69100, Villeurbanne, France.; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Génétique, Bron, France.; Faculté de Médecine Lyon Sud Charles Mérieux, Université de Lyon, Lyon, France.; CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France.

المصدر: European journal of pediatrics [Eur J Pediatr] 2024 Apr; Vol. 183 (4), pp. 1953-1957. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Down Syndrome*/diagnosis , Down Syndrome*/epidemiology, Child ; Humans ; Creatinine

المؤلفون: Bosman W; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Franken GAC; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., de Las Heras J; Division of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Barakaldo, Spain., Madariaga L; Pediatric Nephrology Department, Cruces University Hospital, CIBERDEM, CIBER-ER, Endo-ERN, Biocruces Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain., Barakat TS; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands., van Slegtenhorst M; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Perdomo-Ramírez A; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., Claverie-Martín F; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vargas-Poussou R; Service de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.; Centre de reference des maladies renales hereditaires de l'enfant et de l'adulte MARHEA, hopital Européen Georges Pompidou, Paris, France.; CNRS, centre de recherche des Cordeliers, Inserm UMRS 1138, Sorbonne universite, universite Paris Cité, Paris, France., Dubourg LD; Hôpital Édouard Herriot, Hospices civils de Lyon, service de nephrologie, dialyse, hypertension et exploration fonctionnelle renale, Lyon, France.; Centre de reference des maladies renales rares et phosphocalciques, Nephrogones, Hôpital Femme-Mère-Enfant Bron, Bron, France.; Faculté de medecine Lyon est, Université Claude Bernard Lyon 1, Villeurbanne, France., González-Recio I; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., Martínez-Cruz LA; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain., de Baaij JHF; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands., Hoenderop JGJ; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands. joost.hoenderop@radboudumc.nl.

المصدر: Scientific reports [Sci Rep] 2024 Mar 22; Vol. 14 (1), pp. 6917. Date of Electronic Publication: 2024 Mar 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Cation Transport Proteins*/genetics, Humans ; Magnesium/metabolism ; Seizures/genetics ; Phenotype