High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)
- 1 February 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 68 (2), 347-354
- https://doi.org/10.1086/318199
Abstract
No abstract availableKeywords
This publication has 47 references indexed in Scilit:
- Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate‐deficient glycoprotein syndromeJournal of Inherited Metabolic Disease, 1996
- Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type IBlood Coagulation & Fibrinolysis, 1996
- Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate‐deficient glycoprotein syndromeJournal of Inherited Metabolic Disease, 1996
- Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type IFEBS Letters, 1995
- Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndromeActa Paediatrica, 1995
- Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.Archives of Disease in Childhood, 1995
- Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.British Journal of Ophthalmology, 1994
- Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disordersPediatric Neurology, 1993
- Abnormal short‐latency somatosensory evoked potentials in two patients with carbohydrate‐deficient glycoprotein syndromeActa Paediatrica, 1993
- Early manifestations of the carbohydrate-deficient glycoprotein syndromeThe Journal of Pediatrics, 1993