| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6042110 | Pediatric Neurology | 2015 | 10 Pages |
Abstract
Lumbar puncture is required to detect abnormal cerebrospinal fluid metabolites in a significant proportion of these disorders, including treatable entities such as dopa-responsive deficiencies of guanosine-5'-triphosphate cyclohydrolase I (Segawa disease), sepiapterin reductase, and tyrosine hydroxylase.
Related Topics
Life Sciences
Neuroscience
Developmental Neuroscience
Authors
Lance H. MD, K. Michael PhD, Phillip L. MD,