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unusual presentation of neurononopathic Gauchers disease
Pakistan Journal of Neurological Sciences. 2013; 8 (3): 11-13
in English | IMEMR | ID: emr-130822
ABSTRACT
A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher's disease type 3
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Index: IMEMR (Eastern Mediterranean) Main subject: Apraxias / Ataxia / Splenomegaly / Tremor / Genetic Therapy / Bone Marrow Transplantation / Enzyme Replacement Therapy / Hepatomegaly Type of study: Case report Limits: Humans / Male Language: English Journal: Pak. J. Neurol. Sci. Year: 2013

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Index: IMEMR (Eastern Mediterranean) Main subject: Apraxias / Ataxia / Splenomegaly / Tremor / Genetic Therapy / Bone Marrow Transplantation / Enzyme Replacement Therapy / Hepatomegaly Type of study: Case report Limits: Humans / Male Language: English Journal: Pak. J. Neurol. Sci. Year: 2013