Metachromatic leukodystrophy in Greece: observations on 4 cases
| Autor: | Evagelia Dimitriou, S. Giouroukos, Angeliki Skardoutsou, Ch. Bartsocas, Helen Michelakakis |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Arylsulfatase A Physiology Disease Degenerative disease Internal medicine White blood cell Leukocytes Genetics medicine Humans Incubation Cerebroside-Sulfatase Genetics (clinical) Arylsulphatase A Greece business.industry Infant Leukodystrophy Metachromatic medicine.disease Metachromatic leukodystrophy medicine.anatomical_structure Endocrinology Child Preschool Female Age of onset Lysosomes business |
| Zdroj: | Clinical Genetics. 37:30-34 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1990.tb03387.x |
| Popis: | We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regression and neurological involvement. This was combined with high residual arylsulphatase A activity in white blood cell homogenates even in the 0 degrees C incubation assay. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text