Lanean...
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...
Gorde:
| Argitaratua izan da: | J Pediatr Genet |
|---|---|
| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Georg Thieme Verlag KG
2020
|
| Sarrera elektronikoa: | 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 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|