Hyperinsulinemic Hypoglycemia Associated with a Ca V 1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Autorzy:
Kummer S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, 40225 Duesseldorf, Germany. Rinné S; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35043 Marburg, Germany. Seemann G; Institute for Experimental Cardiovascular Medicine, University Heart Center Freiburg-Bad Krozingen, Medical Center-University of Freiburg, 79085 Freiburg im Breisgau, Germany. Bachmann N; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany. Timothy K; Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA. ThorntonPS; Division of Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX 76104, USA. Pillekamp F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, 40225 Duesseldorf, Germany. Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, 40225 Duesseldorf, Germany. Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, 55128 Mainz, Germany. Meissner T; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, 40225 Duesseldorf, Germany. Decher N; Institute of Physiology and Pathophysiology, Vegetative Physiology, University of Marburg, 35043 Marburg, Germany.
Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families.
Autorzy:
Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Oxford Road, Manchester, M13 9WL, UK. . Raskin J; Congenital Hyperinsulinism International, Glen Ridge, NJ, USA. Arnoux JB; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. De Leon DD; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Weinzimer SA; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. Hammer M; Zealand Pharma A/S, Søborg, Denmark. Kendall DM; Zealand Pharma A/S, Søborg, Denmark. ThorntonPS; Congenital Hyperinsulinism Center, Cook Children's Medical Center, Fort Worth, TX, USA.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 18; Vol. 17 (1), pp. 205. Date of Electronic Publication: 2022 May 18.
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families.
Autorzy:
Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Oxford Road, Manchester, M13 9WL, UK. . Raskin J; Congenital Hyperinsulinism International, Glen Ridge, NJ, USA. Arnoux JB; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. De Leon DD; Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Weinzimer SA; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. Hammer M; Zealand Pharma A/S, Søborg, Denmark. Kendall DM; Zealand Pharma A/S, Søborg, Denmark. ThorntonPS; Congenital Hyperinsulinism Center, Cook Children's Medical Center, Fort Worth, TX, USA.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 19; Vol. 17 (1), pp. 61. Date of Electronic Publication: 2022 Feb 19.
Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.
Autorzy:
Garg PK; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Putegnat B; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Truong L; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Reynolds C; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Sanchez I; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Nedrelow JK; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Uffman J; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Lokitz SJ; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Nazih R; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Garg S; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. ThorntonPS; Cook Children's Medical Center, Fort Worth, Texas, United States of America.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2020 Oct 27; Vol. 15 (10), pp. e0241243. Date of Electronic Publication: 2020 Oct 27 (Print Publication: 2020).
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism.
Autorzy:
Garg PK; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Lokitz SJ; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Truong L; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Putegnat B; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Reynolds C; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Rodriguez L; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Nazih R; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. Nedrelow J; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Guardia M; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Uffman JK; Cook Children's Medical Center, Fort Worth, Texas, United States of America. Garg S; Center for Molecular Imaging and Therapy, Biomedical Research Foundation, Shreveport, Louisiana, United States of America. ThorntonPS; Cook Children's Medical Center, Fort Worth, Texas, United States of America.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Nov 08; Vol. 12 (11), pp. e0186340. Date of Electronic Publication: 2017 Nov 08 (Print Publication: 2017).
Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies
