Article
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Dec 2020
Gun Bilgic Dilek, Gerik Celebi Hamide Betul, Aydin Gumus Aydeniz, Bilgic Abdulkadir, Yazici Havva, Ceylaner Serdar, Yilmaz Celil, Polat Muzaffer, Akbal Sahin Melike, Dereli Fatma, Cam Fethi Sirri
Abstract excerpt
Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive...
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