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Quoted phrase not found in phrase index: "Leukodystrophy, hypomyelinating, 24"
Page 1
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
Quental R, Sampaio M, Alonso I, Quental S, Leão M, Sousa R. Quental R, et al. Neuropediatrics. 2023 Apr;54(2):120-125. doi: 10.1055/s-0042-1760366. Epub 2023 Jan 18. Neuropediatrics. 2023. PMID: 36652953 Review.
BACKGROUND: Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder with early onset characterized by microcephaly, axial hypotonia, epilepsy, spasticity, and developmental delay. ...RESULTS: We re …
BACKGROUND: Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerativ …
Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.
Duignan S, Wright S, Rossor T, Cazabon J, Gilmour K, Ciccarelli O, Wassmer E, Lim M, Hemingway C, Hacohen Y. Duignan S, et al. Dev Med Child Neurol. 2018 Sep;60(9):958-962. doi: 10.1111/dmcn.13703. Epub 2018 Feb 22. Dev Med Child Neurol. 2018. PMID: 29468668 Free article.
Of the children with longitudinal samples, 8 out of 13 AQP4-Ab remained positive during the disease course compared to 35 out of 43 MOG-Ab (13/16 monophasic and 22/27 relapsing). ...Myelin oligodendrocyte glycoprotein antibodies are not identified in children with peripher …
Of the children with longitudinal samples, 8 out of 13 AQP4-Ab remained positive during the disease course compared to 35 out of 43 M …