A New Variant of Mannosidosis with Increased Residual Enzymatic Activity and Mild Clinical Manifestation
- 1 October 1978
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 12 (10), 1010-1015
- https://doi.org/10.1203/00006450-197810000-00012
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 4 references indexed in Scilit:
- MannosidosisArchives of Neurology, 1977
- Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical StudiesPediatric Research, 1976
- 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
- Mannosidosis. Storage of Mannose-containing Material in Cultured Human Mannosidosis Cells and Metabolic Correction by Pig Kidney α-MannosidaseHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1976