Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 8, p. 1020, doi. 10.1001/jamaneurol.2016.0268
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- Publication type:
- Article
Works matching AU Rhead, William J.
Results: 6
1
2
Abetalipoproteinemia.
- Published in:
- Ophthalmologica, 1984, v. 189, n. 1/2, p. 73, doi. 10.1159/000309389
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- Publication type:
- Article
3
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 19, p. 2069, doi. 10.1093/hmg/10.19.2069
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- Publication type:
- Article
4
Functional Correction of Short-Chain Acyl-CoA Dehydrogenase Deficiency in Transgenic Mice: Implications for Gene Therapy of Human Mitochondrial Enzyme Deficiencies.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1451, doi. 10.1093/hmg/6.9.1451
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- Publication type:
- Article
5
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study.
- Published in:
- Journal of Magnetic Resonance Imaging, 2004, v. 20, n. 4, p. 674, doi. 10.1002/jmri.20162
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- Publication type:
- Article
6
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1976, doi. 10.1002/humu.21399
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- Publication type:
- Article