Combined deficiency of β-galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form
| العنوان: | Combined deficiency of β-galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form |
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| المؤلفون: | T. C. Martin, P. Strisciuglio, William S. Sly, W. E. Dodson, William H. McAlister |
| المساهمون: | Strisciuglio, Pietro, Sly, W, Dodson, We, Mcalister, Wh, Martin, T. C. |
| المصدر: | American Journal of Medical Genetics. 37:573-577 |
| بيانات النشر: | Wiley, 1990. |
| سنة النشر: | 1990 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Aortic Valve Insufficiency, Hepatosplenomegaly, Neuraminidase, Cardiomegaly, Disease, Humans, Medicine, Genetics (clinical), biology, business.industry, Dysostosis multiplex, Dysostoses, Infant, Mitral Valve Insufficiency, Dysostosis, beta-Galactosidase, medicine.disease, Natural history, medicine.anatomical_structure, Splenomegaly, Immunology, biology.protein, Female, Bone marrow, medicine.symptom, Lysosomes, business, Galactosialidosis, Carbohydrate Metabolism, Inborn Errors, Hepatomegaly |
| الوصف: | We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. Foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes. |
| وصف الملف: | STAMPA |
| تدمد: | 1096-8628 0148-7299 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aad47b6e42de08d7a49adc941bd3f1cTest https://doi.org/10.1002/ajmg.1320370431Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....1aad47b6e42de08d7a49adc941bd3f1c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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