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Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
Andelman-Gur, Michal M; Saitsu, Hirotomo; Matsumoto, Naomichi; Spiegel, Ronen; Yosovich, Keren; Lev, Dorit; Lerman-Sagie, Tally; Blumkin, Lubov.
Affiliation
  • Andelman-Gur MM; Weizmann Institute of Science, Rehovot, Israel.
  • Saitsu H; Departments of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, 431-3192, Japan.
  • Matsumoto N; Departments of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Spiegel R; Pediatrics Department A and Genetic Institute Ha'Emek Medical Center, Afula, Israel.
  • Yosovich K; Metabolic-Neurogenetic Clinic, Israel; Molecular Genetics Laboratory, Israel.
  • Lev D; Metabolic-Neurogenetic Clinic, Israel; The Rina Mor Institute of Medical Genetics, Israel; Sackler School of Medicine, Tel-Aviv University, Israel.
  • Lerman-Sagie T; Metabolic-Neurogenetic Clinic, Israel; Pediatric Neurology Unit, Israel; Sackler School of Medicine, Tel-Aviv University, Israel.
  • Blumkin L; Metabolic-Neurogenetic Clinic, Israel; Pediatric Neurology Unit, Israel; Pediatric Movement Disorders Service, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address: luba.blumkin@gmail.com.
Eur J Med Genet ; 63(12): 104061, 2020 Dec.
Article in En | MEDLINE | ID: mdl-32890691
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Purine-Pyrimidine Metabolism, Inborn Errors / Autistic Disorder / Tremor / Adenylosuccinate Lyase / Myoclonus Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Israel
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Purine-Pyrimidine Metabolism, Inborn Errors / Autistic Disorder / Tremor / Adenylosuccinate Lyase / Myoclonus Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Israel