Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening-Reference-Cited by-同舟云学术

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Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Published:2023-09 Issue: Volume:36 Page:100989
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Jackson David G.,Case Laura E.,Huggins Erin,Holland Maggie,Blount Janet,Webb Lisa Hobson,Kishnani Priya S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference25 articles.

1. Pompe disease: Glycogen storage disease type II, acid α-glucosidase (acid maltase) deficiency;Reuser,2019

2. Pompe disease newborn screening working group. The initial evaluation of patients after positive newborn screening: recommended algorithms leading to a confirmed diagnosis of Pompe disease;Burton;Pediatrics.,2017

3. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand;Raben;Autophagy.,2007

4. Diagnostic tools in late onset Pompe disease (LOPD);Musumeci;Ann. Transl. Med.,2019

5. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry;Kishnani;Am. J. Med. Genet. A,2013

Cited by 1 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. Muscle ultrasound in myopathies;Current Opinion in Neurology;2024-07-25

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