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Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.

作者信息

Muthusamy Karthik, Boyer Suzanne, Patterson Marc, Bierau Jorgen, Wortmann Saskia, Morava Eva

机构信息

From the Departments of Clinical Genomics (K.M., S.B., E.M.), Neurology, Pediatrics, Clinical Genomics (M.P.), and Laboratory Medicine and Pathology (E.M.), Mayo Clinic, Rochester, MN; Department of Laboratory Medicine (J.B.), Maastricht University, the Netherlands; University Children's Hospital (S.W.), Paracelsus Medical University (PMU), Salzburg, Austria; and Amalia Children's Hospital (S.W.), Radboud UMC, Nijmegen, the Netherlands.

出版信息

Neurology. 2021 Jul 6;97(1):e109-e110. doi: 10.1212/WNL.0000000000011719. Epub 2021 Feb 16.

DOI:10.1212/WNL.0000000000011719
PMID:33593863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8312857/
Abstract
摘要

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本文引用的文献

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.ITPase 缺乏症导致马索夫尔样综合征伴致死性婴儿扩张型心肌病。
PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.
2
Recessive ITPA mutations cause an early infantile encephalopathy.隐性 ITPA 突变导致早发性婴儿脑病。
Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21.