Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis
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DOI：
10.1177/08830738050200010901
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发表时间：
2005-01-01
影响因子：
1.9
通讯作者：
d'Azzo, A
中科院分区：
文献类型：
--
作者：
Gururaj, A;Sztriha, L;d'Azzo, A
Two unrelated children and their siblings of Arab origin were diagnosed as having G(M1) gangliosidosis on the basis of clinical features and markedly low levels of P-galactosidase. The T-2-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population.
