Affiliation: University College London
- Experience in prenatal diagnosis of primary hyperoxaluria type 1G Rumsby
Department of Chemical Pathology UCL Hospitals, London, United Kingdon
J Nephrol 11:13-4. 1998..The methods, which use a combination of linked polymorphisms and detection of the two most common mutations, have a diagnostic accuracy of > 99% and can be performed in the first trimester of pregnancy...
- Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical formsG Rumsby
Department of Chemical Pathology, University College London Medical School, UK
Clin Endocrinol (Oxf) 48:707-11. 1998....
- Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?F Oberender
Department of Paediatric Endocrinology and Clinical Biochemistry, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
Horm Res 62:241-4. 2004..5 years. Because of actual or incipient virilization, both patients were treated with glucocorticoid replacement 8-12 mg/m(2)/day. This decision is discussed in the context of published guidelines for the management of 21OHD...
- Biochemical and genetic diagnosis of the primary hyperoxalurias: a reviewG Rumsby
Chemical Pathology, UCL Hospitals, London, England, UK
Mol Urol 4:349-54. 2000..While genetic analysis of PH2 is still at a relatively early stage, the AGXT gene defective in the Type 1 disorder is well characterized, and a number of mutations have been identified...
- Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasiaB Masturzo
Academic Department of Obstetrics and Gynaecology, University College London Hospitals, London, UK
Prenat Diagn 21:314-6. 2001..These findings in four affected fetuses suggest that congenital adrenal hyperplasia should be added to the list of genetic anomalies associated with an increase in nuchal translucency...
- 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhoodO D Wolthers
London Centre for Paediatric Endocrinology and Metabolism, University College London Hospitals, London, UK
Horm Res 57:133-6. 2002..No mutations in the CYP 17 gene were found in any of the girls...