Mannosidosis: Clinical and biochemical studies in a family of affected adolescents and adults
- 31 May 1976
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 88 (5), 821-824
- https://doi.org/10.1016/s0022-3476(76)81122-5
Abstract
No abstract availableThis publication has 10 references indexed in Scilit:
- Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblastsClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- Excretion of mannose-rich complex carbohydrates by a patient with α-mannosidase deficiency (mannosidosis)The Journal of Pediatrics, 1974
- MANNOSIDOSIS: CLINICAL, FINE‐STRUCTURAL AND BIOCHEMICAL FINDINGS IN THREE CASESActa Paediatrica, 1973
- Urinary mannose in mannosidosisThe Journal of Pediatrics, 1973
- Human mannosidosis — The enzymic defectBiochemical and Biophysical Research Communications, 1972
- Coarse Facies, Calvarial Thickening and Hyperphosphatasia Associated with Long-Term Anticonvulsant TherapyNew England Journal of Medicine, 1972
- Mannosidosis: A clinical and histopathologic studyThe Journal of Pediatrics, 1969
- Mannosidosis: Isolation of oligosaccharide storage material from brainThe Journal of Pediatrics, 1969
- A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROMEThe Lancet, 1967
- Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism)Nature, 1967