chitosidrasi

texjax DDS PhD (asker) Jan 3, 2014:

Thank you all and Happy New Year!

Joseph Tein Dec 29, 2013:

chitotriosidasi I think the source just had a typo or misspelling, and that's what made it confusing. See for example:

"Presso il Laboratorio Malattie Rare vengono effettuati dosaggi di attività enzimatica (enzimi lisosomiali,
chitotriosidasi plasmatica) e di aminoacidi plasmatici o urinari ... per la malattia di Niemann-Pick tipo C, ... "

"Presso il Laboratorio del Centro di Coordinamento Regionale per le Malattie Rare si eseguono le seguenti determinazioni: Dosaggio dell’attività della chitotriosidasi plasmatica ... "

"La diminuita attività della beta-glucosidasi acida e gli elevati livelli sierici delle chitotriosidasi ... hanno portato alla iniziale diagnosi di malattia di Gaucher."

Rachel Fell Dec 29, 2013:

@Liz: Well, there's that too;-)

liz askew Dec 29, 2013:

The references posted fully support "chitotriosidase"

Rachel Fell Dec 29, 2013:

Phil: Because the only instance of this term seems to be this question

philgoddard Dec 29, 2013:

How do you know?

texjax DDS PhD (asker) Dec 29, 2013:

Perfect. That's it! Thank you so much. If you want to put is as an answer I'll be happy to close the question.

philgoddard Dec 29, 2013:

I'm not sure I'd put it as an answer, because it's very different to the Italian word.

liz askew Dec 29, 2013:

Type C - Welcome to the Niemann-Pick Disease Group (UK)
www.niemannpick.org.uk › What is Niemann-Pick Disease?‎
29 Jun 2010 - Niemann-Pick disease type C (NPC) is an extremely rare genetic ... Meanwhile, a blood test to check for raised chitotriosidase levels may be ...

liz askew Dec 29, 2013:

possibly:
www.ncbi.nlm.nih.gov/pubmed/16972172‎
by M Ries - ‎2006 - ‎Cited by 48 - ‎Related articles
27 Jul 2006 - Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease ...

philgoddard Dec 29, 2013:

I'm not a medic, so this may be completely wrong, but could it be chitotriosidase?