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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
Karimzadeh, Parvaneh; Naderi, Samaneh; Modarresi, Farzaneh; Dastsooz, Hassan; Nemati, Hamid; Farokhashtiani, Tayebeh; Shamsian, Bibi Shahin; Inaloo, Soroor; Faghihi, Mohammad Ali.
Affiliation
  • Karimzadeh P; Pediatric Neurology Department, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
  • Naderi S; Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Modarresi F; Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA.
  • Dastsooz H; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Nemati H; Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. nematih@sums.ac.ir.
  • Farokhashtiani T; Pediatric Neurology Department, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
  • Shamsian BS; Pediatric Congenital Hematologic Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Inaloo S; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Faghihi MA; Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA. MFaghihi@med.miami.edu.
BMC Med Genet ; 18(1): 73, 2017 07 17.
Article in En | MEDLINE | ID: mdl-28716012
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Full text: 1 Database: MEDLINE Main subject: Gangliosidosis, GM1 / Beta-Galactosidase / Mutation, Missense Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Gangliosidosis, GM1 / Beta-Galactosidase / Mutation, Missense Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Year: 2017 Type: Article