Progressive cerebellar ataxia in juvenile GM 2 -gangliosidosis type Sandhoff

Author:

Beck M.,Sieber N.,Goebel H. H.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency, and Niemann-Pick Type C;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

2. The role of MRI and MRS in the diagnosis of non hydrocephalic macrocrania in infancy and early childhood;The Egyptian Journal of Radiology and Nuclear Medicine;2016-03

3. Lysosomal Storage Disorders Including Neuronal Ceroid Lipofuscinoses;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2014

4. Genetic Counselling: Consanguinity and Cultural Expectations;eLS;2012-05-15

5. Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis;Metabolic Brain Disease;2008-07-23

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