Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study-Reference-Cited by-同舟云学术

Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

Published:2019-03-04 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Confalonieri Marco^ORCID, ,Vitacca Michele,Scala Raffaele,Polverino Mario,Sabato Eugenio,Crescimanno Grazia,Ceriana Piero,Antonaglia Caterina,Siciliano Gabriele,Ring Nadja,Zacchigna Serena,Salton Francesco,Vianello Andrea

Funder

Genzyme

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1037-1.pdf

Reference20 articles.

1. Raben N, Plotz P, Byrne BJ. Acid-alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2:145–66.

2. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guidelines. Genetics Med. 2006;8:267–88.

3. Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol. 2013;32:82–4.

4. Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, et al. The emerging phenotype of late-onset Pompe disease: a systematic literature review. Mol Gen Metabol. 2017;120:163–72.

5. Winkel LP, Hagemans ML, Van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol. 2005;252:875–84.

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Navigating Pompe Disease Assessment: A Comprehensive Scoping Review;2024-01-30

2. Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective;Frontiers in Neurology;2023-05-17

3. A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting;Journal of Neuromuscular Diseases;2022-09-09

4. Recognition and Assessment of the Neuromuscular Emergency;Emergencies in Neuromuscular Disorders;2022

5. Late onset Pompe Disease in India – Beyond the Caucasian phenotype;Neuromuscular Disorders;2021-05