Mannosidosis: Tissue culture studies in relation to prenatal diagnosis
- 1 March 1978
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 1 (1) , 19-23
- https://doi.org/10.1007/bf01805710
Abstract
No abstract availableThis publication has 19 references indexed in Scilit:
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- Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parentsThe Journal of Pediatrics, 1976
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- Excretion of mannose-rich complex carbohydrates by a patient with α-mannosidase deficiency (mannosidosis)The Journal of Pediatrics, 1974
- An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniquesClinical Genetics, 1974
- Mannosidosis: Detection of the disease and of heterozygotes using serum and leucocytesBiochemical and Biophysical Research Communications, 1974
- Urinary mannose in mannosidosisThe Journal of Pediatrics, 1973
- Human mannosidosis — The enzymic defectBiochemical and Biophysical Research Communications, 1972
- Mannosidosis: A clinical and histopathologic studyThe Journal of Pediatrics, 1969