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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran, Amit; Proskorovski-Ohayon, Regina; Eskin-Schwartz, Marina; Yogev, Yuval; Drabkin, Max; Eremenko, Ekaterina; Aharoni, Sarit; Freund, Ofek; Jean, Matan M; Agam, Nadav; Hadar, Noam; Loewenthal, Neta; Staretz-Chacham, Orna; Birk, Ohad S.
Afiliación
  • Safran A; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Proskorovski-Ohayon R; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Eskin-Schwartz M; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Yogev Y; Genetics Institute, Soroka Medical Center, Beer Sheva, Israel.
  • Drabkin M; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Eremenko E; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Aharoni S; Department of Life Sciences and Shraga Segal Department of Microbiology, Immunology and Genetics, National Institute of Biotechnology in the Negev, Zlotowski Neuroscience Center and the Regenerative Medicine and Stem Cell Research Center, Ben-Gurion University, Beer Sheva, Israel.
  • Freund O; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Jean MM; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Agam N; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Hadar N; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Loewenthal N; Morris Kahn Laboratory of Human Genetics at the Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences and National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva, Israel.
  • Staretz-Chacham O; Pediatric Endocrinology Unit, Pediatric Division, Soroka Medical Center, Beer Sheva, Israel.
  • Birk OS; Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel.
J Inherit Metab Dis ; 46(4): 744-755, 2023 07.
Article en En | MEDLINE | ID: mdl-36695547
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperamonemia / Hiperinsulinismo Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Israel
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperamonemia / Hiperinsulinismo Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Israel