Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

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Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

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scientific article published on 03 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Clinical presentation and outc ...... stry with five novel mutations

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Johannes Zschocke

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Nima Parvaneh

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Parastoo Rostami

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Zahra Rezaei

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P2860

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Lysosomal storage disorders in the newborn.

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Sandhoff disease in the Turkish population.

A 7-year old white-male boy with progressive neurological deterioration.

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

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s13023-018-0876-5

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130

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scholarly article

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10.1186/S13023-018-0876-5

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English

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Mahmood Reza Ashrafi

Alireza Tavasoli

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2018-08-03T00:00:00Z

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1105973585

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30075786

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6091055

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