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Precision Health Database


Precision Health Database|Search|PHGKB

Rare Diseases

Last data update: Dec 05, 2023. (Total: 62234 Documents since 2012)
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Records 1 - 3 (of 3 Records)

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Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
CLINGEN Actionability Report for Methylmalonic Academia - MUT, MMAA, MMAB, MMADHC, MCEE, MMACHC
ClinGen Actionability Working Group
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero Emanuela et al. Molecular bioSystems 2015 Jun 11(6) 1525-35
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