Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
- 12 January 2005
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Pediatrics
- Vol. 164 (4), 223-226
- https://doi.org/10.1007/s00431-004-1611-x
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapiesEuropean Journal of Pediatrics, 2003
- Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaJournal of Inherited Metabolic Disease, 2003
- Macrophage activation syndrome: a potentially fatal complication of rheumatic disordersArchives of Disease in Childhood, 2001
- Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotypeArchives of Disease in Childhood, 2001
- Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)Human Mutation, 2000
- PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian familiesHuman Mutation, 2000
- Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activitiesThe Journal of Pediatrics, 1998
- Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1AAmerican Journal of Human Genetics, 1998
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- The carbohydrate‐deficient glycoprotein syndromes: An overviewJournal of Inherited Metabolic Disease, 1993