紧急程度中等
-中度严重
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- Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region. Al-Hassnan Z, Hashmi NA, Makhseed N, Omran TB, Al Jasmi F, Teneiji AA.
- Orphanet J Rare Dis. 2022 Oct 27;17(1):388. doi: 10.1186/s13023-022-02545-w. PMID: 36303251.
- Barba-Romero MA, Garcia-Cuartero I. Importance of clinical suspicion in the diagnosis of late-onset Pompe disease. Rev Neurol. 2016 Sep 1;63(5):236-8. English, Spanish. PMID: 27569570.
- Ley-Martos M, Salado-Reyes MJ, Espinosa-Rosso R, Solera-García J, Jiménez-Jiménez L. Variabilidad en la presentación clínica en la enfermedad de Pompe: evolución tras terapia de reemplazo enzimático [Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy]. Rev Neurol. 2015 Nov 1;61(9):416-20. Spanish. PMID: 26503317.
- Meena NK, Raben N. Pompe Disease: New Developments in an Old Lysosomal Storage Disorder. Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339. PMID: 32962155; PMCID: PMC7564159.
医生 Oscar Garcia-Esquirol
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