GM1-gangliosidosis. A variant with high activity of hepatic neutral ?-galactosidase
| Autor: | Taketoshi Hayakawa, Makoto Yazaki, Yoshiyuki Suzuki, Yoshiki Hiratani |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
medicine.medical_specialty
Ganglioside biology business.industry GM1 Gangliosidosis General Medicine Gangliosidosis medicine.disease carbohydrates (lipids) Convulsive Seizures Endocrinology Internal medicine Pediatrics Perinatology and Child Health medicine biology.protein High activity lipids (amino acids peptides and proteins) Radiology Nuclear Medicine and imaging Beta-galactosidase business |
| Zdroj: | European Journal of Pediatrics. 122:177-186 |
| ISSN: | 1432-1076 0340-6997 |
| DOI: | 10.1007/bf00463735 |
| Popis: | A case of GM1-gangliosidosis with high activity of hepatic neutral β-galactosidase is reported. GM1-β-galactosidase was deficient. Ganglioside GM1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and macular cherry-red spots, but lacked gargoylelike clinical characteristics. Correlation of clinical and biochemical data is discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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