Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen.

Autor:	Machacek, Miranda E., Gogakos, Tasos, Fletcher, Madeline C., Lunderville, Kathryn A., Swoboda, Kathryn J., Sohani, Aliyah R.
Předmět:	SPINAL muscular atrophy SPINAL injections MACROPHAGES NUCLEOTIDES CEREBROSPINAL fluid
Zdroj:	International Journal of Laboratory Hematology; Jun2021, Vol. 43 Issue 3, pe104-e106, 3p
Abstrakt:	The article presents a case study of a 24-day-old male infant receiving his second loading dose of nusinersen. Topics include the nusinersen is an antisense oligonucleotide therapy, the spinal muscular atrophy (SMA) is an autosomal recessive disorder leading to loss of voluntary muscle movement, the respiratory failure due to a deficiency of survival motor neuron 1 (SMN1), and the patients present on a phenotypic spectrum based on the copy number variant of the paralogous SMN2 gene.
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.