Late onset Aicardi–Goutières syndrome case report: a rare white matter disease mimicking as pseudo-enzyme deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-021-01809-9.pdf
Reference5 articles.
1. Crow YJ, Chase DS, Lowenstein Schmidt J et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Med Genet A 167A(2):296–312. https://doi.org/10.1002/ajmg.a.36887
2. Piccoli C, Bronner N, Gavazzi F et al (2021) Late-onset Aicardi–Goutières syndrome: a characterization of presenting clinical features. Pediatr Neurol 115:1–6. https://doi.org/10.1016/j.pediatrneurol.2020.10.012
3. Lott IT, Delaney JT, Elian E, Milunsky A, Hoefnagel D, Moser HW (1976) Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr 89:438–440
4. Emre S, Topçu M, Terzioğlu M, Renda Y (2000) Arylsulfatase A pseudodeficiency incidence in Turkey. Turk J Pediatr 42:115–117
5. Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M et al (2006) Late-oncet metachromatic leukodystrophy. Genotype strongly influences phenotype. Neurology 67:859–863
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