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Titel:

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Lenz, Dominic; Stahl, Mirjam; Seidl, Elias; Schöndorf, Dominik; Brennenstuhl, Heiko; Gesenhues, Florian; Heinzmann, Tina; Longerich, Thomas; Mendes, Marisa I; Prokisch, Holger; Salomons, Gajja S; Schön, Carola; Smith, Desirée E C; Sommerburg, Olaf; Wagner, Matias; Westhoff, Jens H; Reiter, Karl; Staufner, Christian; Griese, Matthias
Abstract:
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a heterogeneous condition with more than 100 different underlying disorders that need to be differentiated to target therapeutic options, which are generally limited. METHODS: The clinical course of two brothers with pathogenic variants in the methionyl-tRNA synthetase (MARS)1 gene was compared to previously published patients. Functional studies in patient-derived fibroblasts were performed and therapeutic options evaluated. RESULTS: The young...     »
Zeitschriftentitel:
Pediatr Pulmonol
Jahr:
2020
Band / Volume:
55
Heft / Issue:
11
Seitenangaben Beitrag:
3057-3066
Volltext / DOI:
doi:10.1002/ppul.25031
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32833345
Print-ISSN:
8755-6863
TUM Einrichtung:
611; Institut für Humangenetik
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