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[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra, Nadra; Morani, Ilham; Bayan, Hino; Bakry, Doua; Shaalan, Munia; Saadi, Hadi; Beni Shrem, Sara; Sawaed, Alaa; Kok, Gautam; Muffels, Irena J; Fuchs, Sabine A; Shapira-Rootman, Mika; Mor-Shaked, Hagar; Mandel, Hanna.
Affiliation
  • Nasser Samra N; Department of Genetics, Ziv Medical Center, Bar-Ilan University Faculty of Medicine, Safed, Israel.
  • Morani I; Department of Genetics, Ziv Medical Center, Bar-Ilan University Faculty of Medicine, Safed, Israel.
  • Bayan H; Department of Pediatrics, Ziv Medical Center, Safed, Israel.
  • Bakry D; Department of Pediatrics, Ziv Medical Center, Safed, Israel.
  • Shaalan M; Department of Pediatrics, Ziv Medical Center, Safed, Israel.
  • Saadi H; Department of Pediatrics, Ziv Medical Center, Safed, Israel.
  • Beni Shrem S; Pediatric Neurology and Development Center, Carmiel Meuhedet Health Services, Israel.
  • Sawaed A; Department of Internal Medicine, Ziv Medical Center, Zefat, Israel.
  • Kok G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Holland, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Muffels IJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Holland, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Holland, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Shapira-Rootman M; Department of Radiology, Rambam Health Care Campus, Haifa, Israel.
  • Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Faculty of Medicine, Hebrew University of Jerusalem, Israel.
  • Mandel H; Department of Genetics, Ziv Medical Center, Pediatric Metabolic Clinic, Ziv Medical Center, Safed, Israel.
Harefuah ; 162(6): 344-351, 2023 Jun.
Article in He | MEDLINE | ID: mdl-37394435
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Humans Language: He Journal: Harefuah Year: 2023 Document type: Article Affiliation country: Israel Country of publication: Israel
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Humans Language: He Journal: Harefuah Year: 2023 Document type: Article Affiliation country: Israel Country of publication: Israel