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Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency.
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3
Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency.
Clin Chim Acta. 1990 May;188(3):243-52. doi: 10.1016/0009-8981(90)90206-8.
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Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency.
Adv Exp Med Biol. 1989;253A:97-102. doi: 10.1007/978-1-4684-5673-8_15.
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Magnetic resonance techniques in the assessment of myelin and myelination.
J Inherit Metab Dis. 2005;28(3):311-43. doi: 10.1007/s10545-005-5952-z.
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Teaching NeuroImages: Acute necrotizing encephalopathy of childhood: Neuroimaging findings.
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Reversible encephalopathy caused by an inborn error of cobalamin metabolism.
Lancet. 2019 Feb 16;393(10172):e29. doi: 10.1016/S0140-6736(19)30043-1. Epub 2019 Feb 14.
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Progressive degeneration of the cerebral cortex in infancy.
Brain. 1968 Jun;91(2):261-80. doi: 10.1093/brain/91.2.261.
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Pharmacogenetic significance of inosine triphosphatase.
Pharmacogenomics. 2007 Sep;8(9):1221-8. doi: 10.2217/14622416.8.9.1221.

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
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.
Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21.

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