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Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome
Mucolipidosis II α/beta (MLII) is an autosomal recessive disease in which a gene mutation leads to improper targeting of lysosomal enzymes with an end result of accumulation of lysosomes in the mitochondria resulting in a dysfunctional mitochondria. 1 Leigh syndrome (LS) is a rare progressive neurod...
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| Udgivet i: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Georg Thieme Verlag KG
2020
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| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7183396/ https://ncbi.nlm.nih.gov/pubmed/32341820 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1700519 |
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