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Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.
Neurol Genet. 2024 Nov 25;10(6):e200209. doi: 10.1212/NXG.0000000000200209. eCollection 2024 Dec.
Neurol Genet. 2024.
PMID: 39601013
Free PMC article.
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.
Ciancio JIR, Furman M, Banka S, Grunewald S.
Ciancio JIR, et al.
JIMD Rep. 2019 Jul 26;49(1):43-47. doi: 10.1002/jmd2.12072. eCollection 2019 Sep.
JIMD Rep. 2019.
PMID: 31497480
Free PMC article.
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