When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield...
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center
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Turkey: Hacettepe University Faculty of Medicine
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English
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Turkey: Hacettepe University Faculty of Medicine
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Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compa...
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When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center
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TN_cdi_proquest_journals_1016489397
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1016489397
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0041-4301