Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings
- 1 October 1982
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 139 (2) , 142-147
- https://doi.org/10.1007/bf00441499
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Alterations in Cultured Fibroblasts of Sibs with an Infantile Form of a Free (Unbound) Sialic Acid Storage DisorderPediatric Research, 1983
- Generalized N‐Acetylneuraminic Acid Storage Disease: Quantitation and Identification of the Monosaccharide Accumulating in Brain and Other TissuesJournal of Neurochemistry, 1982
- A severe infantile sialidosis: Clinical, biochemical, and microscopic featuresThe Journal of Pediatrics, 1980
- 'Salla Disease'Archives of Neurology, 1979
- Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementiaClinical Genetics, 1978
- Sialidosis (mucolipidosis I).1977
- Aspartylglycosaminuria: A generalized storage diseaseActa Neuropathologica, 1975
- The genetic mucolipidosesHuman Genetics, 1970
- FucosidosisThe Journal of Pediatrics, 1969
- The Thiobarbituric Acid Assay of Sialic AcidsJournal of Biological Chemistry, 1959