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ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud, Iman G; Elmonem, Mohamed A; Zaki, Maha S; Ramadan, Areef; Al-Menabawy, Nihal M; El-Gamal, Aya; Mansour, Lobna; Issa, Mahmoud Y; Abdel-Hamid, Mohamed S; Abdel-Hady, Sawsan; Khalifa, Iman; Ibrahim, Ahmed; Solyom, Alexander; Rolfs, Arndt; Selim, Laila.
Afiliación
  • Mahmoud IG; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Elmonem MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt.
  • Ramadan A; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Al-Menabawy NM; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • El-Gamal A; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Mansour L; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt.
  • Abdel-Hamid MS; Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Giza, Egypt.
  • Abdel-Hady S; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Khalifa I; Pediatrics Department, Helwan University, Cairo, Egypt.
  • Ibrahim A; Pediatrics Department, Suez Canal University, Ismailia, Egypt.
  • Solyom A; Enzyvant, Basel, Switzerland.
  • Rolfs A; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical-Centre and Centogene AG, Rostock, Germany.
  • Selim L; Pediatrics Department, Neurology and Metabolic division, Faculty of Medicine, Cairo University, Cairo, Egypt.
Clin Genet ; 98(6): 598-605, 2020 12.
Article en En | MEDLINE | ID: mdl-32875576
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas Progresivas / Miopatías Distales / Lipogranulomatosis de Farber / Ceramidasa Ácida / Mioclonía Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Egipto
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Mioclónicas Progresivas / Miopatías Distales / Lipogranulomatosis de Farber / Ceramidasa Ácida / Mioclonía Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Año: 2020 Tipo del documento: Article País de afiliación: Egipto