| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8684447 | European Journal of Paediatric Neurology | 2018 | 24 Pages |
Abstract
We alert clinicians to consider the ISCA2 defect as a differential diagnosis of infantile onset leukodystrophies affecting the brain as well as the spinal cord, especially in the presence of elevated CSF glycine or elevated glycine peaks in MR spectroscopy.
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Developmental Neuroscience
Authors
Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif A. Al-Shahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B. Almutairi, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Mohammed Al-Owain, Robert W. Taylor,