Top Tweets for #MMACHC

almost 2 years ago

@john_bumblebee In deze studie was het pas na transfer naar een ander ziekenhuis vh 23 j meisje dat een alerte neuroloog #homocysteïne en #methylmalonzuur testte ondanks rand normaal serum b12. Het meisje en haar zus bleken homozygoot voor #MMACHC gen en hadden #CblCdeficientie.

455

Differentiation Journal @Diff_Journal

about 3 years ago

@Diff_Journal in press highlight! "Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant", latest study from @AnitaQuintana20 lab @UTEP #cblC #MMACHC #Craniofacialdevelopment #cblX #zebrafish

UDN @UDNconnect

over 3 years ago

Participant 211: 15-year-old female with cognitive regression, myoclonus, limb hypertonia, and variants in #ANKZF1, #MMACHC, and #HLCS. Reach out if you know of others with similar symptoms and variants! https://t.co/9wwNnMbncZ

363

CalamityKez #SoTFestV 🤪🫠🤭 @CalamityKez

over 6 years ago

Day 5 - it’s cold but hasn’t stopped us going for a walk! Scary how many groups of people are still walking around normally, we kept our distance #COVID19 #StayAtHomeSaveLives #KidneyDisease #Metabolic #MMACHC #CobalaminC #ShieldedIsolation #12weekstogo

Top Tweets for #MMACHC

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