Development of a rapid simultaneous assay of two urinary tetrasaccharide metabolites using differential ion mobility and tandem mass spectrometry and its application to patients with glycogen storage disease (type Ib and II)
Author:
Funder
National High Level Hospital Clinical Research Funding
the National Key Research and Development Program of China
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry,Analytical Chemistry
Link
https://link.springer.com/content/pdf/10.1007/s00216-023-04964-5.pdf
Reference28 articles.
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3. Stevens D, Milani-Nejad S, Mozaffar T. Pompe disease: a clinical, diagnostic, and therapeutic overview. Curr Treat Options Neurol. 2022;24(11):573–88. https://doi.org/10.1007/s11940-022-00736-1.
4. Barohn RJ, McVey AL, Dimauro S, Griggs RC, Mendell JR, Miller RG. Adult acid maltase deficiency. Muscle Nerve. 1993;16(6):672–6. https://doi.org/10.1002/mus.880160614.
5. Engel AG. Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain. 1970;93(3):599–616. https://doi.org/10.1093/brain/93.3.599.
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