Zobrazeno 1 - 10 of 883 pro vyhledávání: '"Gramer G"'
1
Akademický článek
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.
Autor: Schnabel-Besson E; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Garbade SF; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Gleich F; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, Ulm University Medical School, Ulm, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Burgard P; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Gramer G; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Morath MA; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Tuncel AT; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Keßler S; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Hoffmann GF; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Kölker S; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany., Mütze U; Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Medical Faculty Heidelberg, Heidelberg, Germany.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Aug 27. Date of Electronic Publication: 2024 Aug 27.
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2
Akademický článek
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Autor: Reischl-Hajiabadi AT; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Schnabel E; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Gleich F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mengler K; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lindner M; University Children's Hospital, Frankfurt, Germany., Burgard P; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Posset R; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lommer-Steinhoff S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany., Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany., Gramer G; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lenz D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Christ S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hörster F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mütze U; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 674-689. Date of Electronic Publication: 2024 Apr 02.
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3
Akademický článek
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Autor: Maier EM; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Munich, Germany., Mütze U; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Janzen N; Screening-Labor Hanover, Hanover, Germany.; Department of Clinical Chemistry, Hanover Medical School, Hanover, Germany.; Division of Laboratory Medicine, Centre for Children and Adolescents, Kinder- und Jugendkrankenhaus Auf der Bult, Hanover, Germany., Steuerwald U; Screening-Labor Hanover, Hanover, Germany., Nennstiel U; Bavarian Health and Food Safety Authority, Oberschleissheim, Germany., Odenwald B; Bavarian Health and Food Safety Authority, Oberschleissheim, Germany., Schuhmann E; Laboratory Becker MVZ GbR, Newborn Screening Unit, Munich, Germany., Lotz-Havla AS; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Munich, Germany., Weiss KJ; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Munich, Germany., Hammersen J; Department of Pediatrics, Division of Inborn Errors of Metabolism, University Hospital Erlangen, Erlangen, Germany., Weigel C; Department of Pediatrics, Division of Inborn Errors of Metabolism, University Hospital Erlangen, Erlangen, Germany., Thimm E; Department of General Pediatrics, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, Ulm University Medical School, Ulm, Germany., Das AM; Hanover Medical School, Clinic for Pediatric Kidney-Liver- and Metabolic Diseases, Hanover, Germany., Illsinger S; Hanover Medical School, Clinic for Pediatric Kidney-Liver- and Metabolic Diseases, Hanover, Germany., Gramer G; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany., Fang-Hoffmann J; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Garbade SF; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Okun JG; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Röschinger W; Laboratory Becker MVZ GbR, Newborn Screening Unit, Munich, Germany.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Nov; Vol. 46 (6), pp. 1043-1062. Date of Electronic Publication: 2023 Sep 12.
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5
Akademický článek
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
Autor: Mütze U; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Gleich F; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Gramer G; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany., Posset R; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Krämer J; Ulm Department of Pediatric and Adolescent Medicine, Ulm University Medical School, Ulm, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jan; Vol. 46 (1), pp. 15-27. Date of Electronic Publication: 2022 Oct 04.
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6
Akademický článek
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
Autor: Gramer G; University Medical Center Hamburg-Eppendorf, Department for Inborn Metabolic Diseases, University Children's Hospital, Martinistraße 52, 20246 Hamburg, Germany.; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Wortmann SB; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, 85764 Neuherberg, Germany.; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Fang-Hoffmann J; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Kohlmüller D; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Okun JG; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Prokisch H; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany., Hoffmann GF; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Feb 27; Vol. 10 (1). Date of Electronic Publication: 2024 Feb 27.
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7
Akademický článek
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Autor: Maier P; Centre for Paediatric and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Jeyaweerasinkam S; Department of Paediatrics, SLK-Kliniken Heilbronn GmbH, Am Gesundbrunnen 20-26, 74078 Heilbronn, Germany., Eberhard J; Centre for Paediatric and Adolescent Medicine, Department of Neonatology, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Soueidan L; Dietmar-Hopp Centre for Metabolic Diseases Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany., Hämmerling S; Centre for Paediatric and Adolescent Medicine, Division of Pediatric Pulmonology & Allergy and Cystic Fibrosis Center, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Translational Lung Research Center (TLRC), German Lung Research Center (DZL), University of Heidelberg, Im Neuenheimer Feld 130.3, 69120 Heidelberg, Germany., Kohlmüller D; Dietmar-Hopp Centre for Metabolic Diseases Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany., Feyh P; Dietmar-Hopp Centre for Metabolic Diseases Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany., Gramer G; Centre for Paediatric and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany., Garbade SF; Dietmar-Hopp Centre for Metabolic Diseases Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany., Hoffmann GF; Centre for Paediatric and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Okun JG; Dietmar-Hopp Centre for Metabolic Diseases Heidelberg, University Hospital Heidelberg, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany., Sommerburg O; Centre for Paediatric and Adolescent Medicine, Division of Pediatric Pulmonology & Allergy and Cystic Fibrosis Center, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Translational Lung Research Center (TLRC), German Lung Research Center (DZL), University of Heidelberg, Im Neuenheimer Feld 130.3, 69120 Heidelberg, Germany.
Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Jan 12; Vol. 10 (1). Date of Electronic Publication: 2024 Jan 12.
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8
Akademický článek
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements.
Autor: Gapp S; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Garbade SF; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Feyh P; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brockow I; Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleißheim, Germany., Nennstiel U; Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleißheim, Germany., Hoffmann GF; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Sommerburg O; Translational Lung Research Center (TLRC), German Lung Research Center (DZL), University of Heidelberg, Heidelberg, Germany.; Center for Pediatric and Adolescent Medicine, Division of Pediatric Pulmonology & Allergy and Cystic Fibrosis Center, University Hospital Heidelberg, Heidelberg, Germany., Gramer G; Center for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany.
Publikováno v: Pediatric pulmonology [Pediatr Pulmonol] 2023 Mar; Vol. 58 (3), pp. 844-852. Date of Electronic Publication: 2022 Dec 12.
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9
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
10
Akademický článek
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Autor: Schnabel E; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Gleich F; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Feyh P; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hörster F; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Haas D; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Fang-Hoffmann J; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Morath M; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Gramer G; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Röschinger W; Labor Becker MVZ GbR, Newborn Screening Unit, 81671 Munich, Germany., Garbade SF; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Okun JG; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Mütze U; Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Publikováno v: Nutrients [Nutrients] 2023 Jul 28; Vol. 15 (15). Date of Electronic Publication: 2023 Jul 28.
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