Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy
| Autor: | Winston W. Chen, Hugo W. Moser, Ann B. Moser, Paul Marquis, Hiroshi Shimizu, Frank R. Brown, James M. McDonald |
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| Rok vydání: | 1981 |
| Předmět: |
Male
medicine.medical_specialty Urinary system High-performance liquid chromatography Asymptomatic Excretion Peripheral nerve Internal medicine Medicine Humans Child Cells Cultured Cerebroside-Sulfatase Chromatography High Pressure Liquid Sulfoglycosphingolipids business.industry Infant Leukodystrophy Metachromatic Fibroblasts medicine.disease Metachromatic leukodystrophy Juvenile onset Endocrinology Child Preschool Creatinine Evoked Potentials Auditory Female Neurology (clinical) Brainstem medicine.symptom business |
| Zdroj: | Neurology. 31(8) |
| ISSN: | 0028-3878 |
| Popis: | We studied three patients with metachromatic leukodystrophy, two with late infantile onset and one with juvenile onset. Auditory brainstem responses were abnormal in all patients, including a 14-month-old child who was asymptomatic, with normal neurologic examination and peripheral nerve conduction studies. Auditory brainstem responses therefore indicated early pathology. A new high-performance liquid chromatography assay was used to quantitate the urinary sulfatide excretion at the picomole level. |
| Databáze: | OpenAIRE |
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