30 Years' Experience in Percutaneous Pulmonary Artery Interventions in Transposition of the Great Arteries.

Autor: Joosen RS; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., van der Palen RLF; Division of Pediatric Cardiology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands., Udink Ten Cate FEA; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, the Netherlands., Voskuil M; Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., Krings GJ; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., Bökenkamp R; Division of Pediatric Cardiology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands., Molenschot MC; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., Hahurij ND; Division of Pediatric Cardiology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands., Dickinson MG; Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., Hazekamp MG; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands.; Heart Lung Center, Department of Cardio-thoracic Surgery, Leiden University Medical Center, Leiden, the Netherlands., Schoof PH; Division of Pediatrics, Department of Pediatric Cardiac Surgery, University Medical Center Utrecht, Utrecht, the Netherlands., Slieker MG; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands., Straver B; Division of Pediatric Cardiology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands.; Division of Pediatric Cardiology, Department of Pediatrics, Amsterdam UMC, Amsterdam, the Netherlands., Blom NA; Division of Pediatric Cardiology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.; Center for Congenital Heart Disease Amsterdam-Leiden, Leiden, the Netherlands.; Division of Pediatric Cardiology, Department of Pediatrics, Amsterdam UMC, Amsterdam, the Netherlands., Breur JMPJ; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.

Publikováno v: JACC. Advances [JACC Adv] 2024 Oct 14; Vol. 3 (11), pp. 101327. Date of Electronic Publication: 2024 Oct 14 (Print Publication: 2024).

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.

Autor: Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van den Heuvel FMA; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands., Evertz R; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands., Boesaard E; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Nijveldt R; Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Udink Ten Cate FEA; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (5), pp. 919-934.

LAMA2 -Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.

Autor: Bouman K; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Groothuis JT; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Doorduin J; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., van Alfen N; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Udink Ten Cate FEA; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., van den Heuvel FMA; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Nijveldt R; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Kamsteeg EJ; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Dittrich ATM; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Draaisma JMT; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Janssen MCH; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., van Engelen BGM; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Erasmus CE; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands., Voermans NC; From the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Neurology. Genetics [Neurol Genet] 2023 Jul 19; Vol. 9 (5), pp. e200089. Date of Electronic Publication: 2023 Jul 19 (Print Publication: 2023).

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.

Autor: Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, the Netherlands., Gubbels M; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, the Netherlands., van den Heuvel FMA; Department of Cardiology, Radboud university medical center, Nijmegen, the Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands. Electronic address: Jan.Groothuis@radboudumc.nl., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, the Netherlands., Nijveldt R; Department of Cardiology, Radboud university medical center, Nijmegen, the Netherlands., Udink Ten Cate FEA; Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, the Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands. Electronic address: Nicol.voermans@radboudumc.nl.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Aug; Vol. 32 (8), pp. 635-642. Date of Electronic Publication: 2022 Jun 23.

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Autor: Veenvliet ARJ; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands., Garrelfs MR; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands., Udink Ten Cate FEA; Academic Center for Congenital Heart Disease (ACAHA), Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.; United for Metabolic Diseases, the Netherlands., Schwantje M; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Geurtzen R; Amalia Childrens Hospital, department of neonatology, Radboud University Medical Center, Nijmegen, the Netherlands., van Wegberg AMJ; Department of Gastroenterology and Hepatology, Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, the Netherlands., Huigen MCDG; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Wanders RJA; United for Metabolic Diseases, the Netherlands.; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Derks TGJ; United for Metabolic Diseases, the Netherlands., de Boer L; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands., Houtkooper RH; United for Metabolic Diseases, the Netherlands.; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., de Vries MC; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands., van Karnebeek CDM; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.; United for Metabolic Diseases, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 04; Vol. 31, pp. 100873. Date of Electronic Publication: 2022 May 04 (Print Publication: 2022).