Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried blood...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Lipid Res
मुख्य लेखकों: DeBarber, Andrea E., Kalfon, Limor, Fedida, Ayalla, Fleisher Sheffer, Vered, Ben Haroush, Shani, Chasnyk, Natalia, Shuster Biton, Efrat, Mandel, Hanna, Jeffries, Krystal, Shinwell, Eric S., Falik-Zaccai, Tzipora C.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The American Society for Biochemistry and Molecular Biology 2018
विषय:
Patient-Oriented and Epidemiological Research
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6210902/
https://ncbi.nlm.nih.gov/pubmed/30135217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M087999
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