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Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan
Chylomicron retention disease (CMRD), also known as Anderson’s disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdomin...
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| Publicado no: | Cureus |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7124881/ https://ncbi.nlm.nih.gov/pubmed/32257723 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.7184 |
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