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Tigem
Tigem
@tigem.bsky.social
10 months ago

#MPSAwarenessDay #MPSVI #GeneTherapy #RareDiseases #LysosomalDisorders #TIGEM #FondazioneTelethon #MEUSIX #ClinicalTrials #TranslationalResearch #HopeForRare

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Genetics in Medicine Open
Genetics in Medicine Open
@gimopenjournal.bsky.social
1 year ago
Screenshot of Figure 2: Trends in fractionation methods used for GAG analysis by participants of the College of American Pathologists/American College of Medical Genetics and Genomics BGL Proficiency Testing Program. Other responses not included. LC-MS/MS, liquid chromatography-tandem mass spectrometry; TLC, thin-layer chromatography.

Screenshot of Figure 2: Trends in fractionation methods used for GAG analysis by participants of the College of American Pathologists/American College of Medical Genetics and Genomics BGL Proficiency Testing Program. Other responses not included. LC-MS/MS, liquid chromatography-tandem mass spectrometry; TLC, thin-layer chromatography.

This article summarizes the latest results of CAP/ACMG proficiency testing for urinary glocosaminoglycan analysis, providing diagnostic and clinical guidance of mucopolysaccharidoses bit.ly/3QdNJHZ #GIMO #Glycosaminoglycans #Mucopolysaccharidoses #ProficiencyTesting #LysosomalDisorders

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