Early cardiac involvement in an infantile Sandhoff disease case with novel mutations
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference12 articles.
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2. My journey into the word of sphingolipids and sphingolipidoses;Sandhoff;Proc Jpn Acad Ser B Phys Biol Sci,2012
3. GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed;Smith;Dev Med Child Neurol,2012
4. Natural history of infantile GM2 gangliosidosis;Bley;Pediatrics,2011
5. Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff’s disease (variant of Tay-Sachs disease);Krivit;Am J Med,1972
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1. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11
2. Infantile Sandhoff disease with ventricular septal defect: a case report;Journal of Medical Case Reports;2022-08-25
3. Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease;Child Neurology Open;2022-01
4. Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients;BMC Pediatrics;2021-01-07
5. Animal Model Contributions to Congenital Metabolic Disease;Advances in Experimental Medicine and Biology;2020
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