The carbohydrate deficient glycoprotein syndrome in three Japanese children
- 31 January 1992
- journal article
- case report
- Published by Elsevier in Brain & Development
- Vol. 14 (1), 30-35
- https://doi.org/10.1016/s0387-7604(12)80276-2
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Congenital Dyserythropoietic Anaemia with Peculiar Nuclear AbnormalityScandinavian Journal of Haematology, 2009
- Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy.Archives of Disease in Childhood, 1989
- Disialotransferrin developmental deficiency syndrome.Archives of Disease in Childhood, 1989
- AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINSThe Lancet, 1987
- Erythrocyte membrane proteins in an unusual case of congenital dyserythropoietic anaemia type II (CDA II)British Journal of Haematology, 1982
- Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.Journal of Clinical Investigation, 1981
- Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in l-cell fibroblastsBiochemical and Biophysical Research Communications, 1981
- Properties of Isolated Human alpha1-Antitrypsins of Pi Types M, S and ZEuropean Journal of Biochemistry, 1978
- Trans-membrane control of the receptors on normal and tumor cells II. Surface changes associated with transformation and malignancyBiochimica et Biophysica Acta (BBA) - Reviews on Cancer, 1976
- Response of cell surface glycosyl transferases to dibutyryl adenosine-3′,5′ cyclic monophosphate in virus-transformed and normal cellsExperimental Cell Research, 1975