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Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Kummer, Sebastian; Rinné, Susanne; Seemann, Gunnar; Bachmann, Nadine; Timothy, Katherine; Thornton, Paul S; Pillekamp, Frank; Mayatepek, Ertan; Bergmann, Carsten; Meissner, Thomas; Decher, Niels.
Afiliação
  • 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.
  • Thornton PS; 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.
Int J Mol Sci ; 23(15)2022 Jul 22.
Article em En | MEDLINE | ID: mdl-35897673

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Sindactilia / Hiperinsulinismo Congênito Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Sindactilia / Hiperinsulinismo Congênito Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Suíça