Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.

Authors:
Hong X; Pollard L; He M; Gelb MH; Wood TC.

Journal:
Mol Genet Metab Rep

Publication Year: 2023

DOI:
10.1016/j.ymgmr.2023.100978

PMCID:
PMC10233272

PMID:
37275682

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Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"data availability no data was used for the research described in the article. acknowledgments this work was supported by the funding from the (r01 dk067859"

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Evidence found in paper:

"Declaration of Competing Interest M.H. G. is a consultant for PerkinElmer and a co-founder for GelbChem, LLC. Awarded and filed patents filed by M.H. Gelb and co-workers at the University of Washington include US20140249054A1, US20160298166A1, US8802833B2, EP2191006B1, and EP2385950B1. The other authors declare that they have no conflicts of interest."

Evidence found in paper:

"This work was supported by the funding from the 10.13039/100000002National Institutes of Health (R01 DK067859)."

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Last Updated: Aug 05, 2025