Mucolipidosis IV
- 18 November 1979
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 10 (04), 321-331
- https://doi.org/10.1055/s-0028-1085335
Abstract
Five new cases of Mucolipidosis IV are related and the seven cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjunctival biopsies for its diagnosis are emphasized. Arguments in favour of a recessive autosomic inheritance are brought forth. The disease does not affect exclusively Jewish people. In two cases absence of oligo-sacchariduria was demonstrated.Keywords
This publication has 7 references indexed in Scilit:
- Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.Journal of Neurology, Neurosurgery & Psychiatry, 1978
- Structure of Nine Sialyl-Oligosaccharides Accumulated in Urine of Eleven Patients with Three Different Types of Sialidosis. Mucolipidosis II and Two New Types of MucolipidosisEuropean Journal of Biochemistry, 1977
- MUCOPOLYSACCHARIDE ACCUMULATION IN CULTURED SKIN FIBROBLASTS DERIVED FROM PATIENTS WITH MUCOLIPIDOSIS-IV1977
- Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblastsBiochemical and Biophysical Research Communications, 1977
- Prenatal diagnosis of mucolipidosis IV by electron microscopyThe Journal of Pediatrics, 1977
- DEFICIT IN NEURAMINIDASE ASSOCIATED WITH MUCOLIPIDOSIS-2 (I-CELL DISEASE)1976
- A method of preparing peripheral leucocytes for electron microscopyJournal of Ultrastructure Research, 1965