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1. Full Text Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
by Karimzadeh, Parvaneh and Naderi, Samaneh and Modarresi, Farzaneh and Dastsooz, Hassan and Nemati, Hamid and Farokhashtiani, Tayebeh and Shamsian, Bibi Shahin and Inaloo, Soroor and Faghihi, Mohammad Ali
BMC Medical Genetics, ISSN 1471-2350, 07/2017, Volume 18, Issue 1, pp. 73 - 7
Background: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of... 
GLB1 | GM1 gangliosidosis | Case report | PATHOGENESIS | FAMILIES | GM1-GANGLIOSIDOSIS | DISEASE | GENETICS & HEREDITY | BETA-GALACTOSIDASE DEFICIENCY | Gangliosidosis, GM1 - genetics | Humans | Child, Preschool | Female | Male | Consanguinity | Mutation, Missense | beta-Galactosidase - genetics | Child | Case studies | Causes of | Genetic aspects | Gene mutations | Health aspects | Enzymes | Pediatrics | Gangliosidosis | Nuclear magnetic resonance--NMR | Laboratories | Pathogenesis | Case reports | Nervous system | Heredity | Metabolism | Patients | Hereditary diseases | Studies | Neurological diseases | Neurology | Missense mutation | Neurodegeneration | Ataxia | Children | Mutation | Dystonia | Age
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