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Browse result for Pulmonary surfactant metabolism dysfunction
※ introduction Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).
Reference
OMIM: Pulmonary surfactant metabolism dysfunction
Reference
OMIM: Pulmonary surfactant metabolism dysfunction
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04091 | P11686 | 6440 | SFTPC | Surfactant protein C ) | Homo sapiens |
| PTMD11888 | Q99758 | 21 | ABCA3 | Phospholipid-transporting ATPase ABCA3 [Cleaved into: 150 Kda mature form] | Homo sapiens |
