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GM(1)-generalized gangliosidosis variant with cardiomegaly
A female infant with generalized GM(1)-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance. She had a higher residual leucocyte β-gal...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
1976
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2496387/ https://ncbi.nlm.nih.gov/pubmed/131309 |
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