论文信息 - Novel genotype of mevalonic aciduria with fatalities in premature siblings

Novel genotype of mevalonic aciduria with fatalities in premature siblings

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.

[1] HR Waterham,et al. Inherited disorders of cholesterol biosynthesis , 2002, Clinical genetics.

[2] Jerome Engel,et al. A Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy: Report of the ILAE Task Force on Classification and Terminology , 2001, Epilepsia.

[3] Nick Fogt,et al. The Neurology of Eye Movements, 3rd ed. , 2000 .

[4] A. Larner,et al. Can myasthenia gravis be diagnosed with the ‘ice pack test’? A cautionary note , 2000, Postgraduate medical journal.

[5] Activate your online subscription , 2000, Neurology.

[6] H. Waterham,et al. Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. , 1999, Human molecular genetics.

[7] K. Gibson,et al. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. , 1998, American journal of medical genetics.

[8] K. Sartor,et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. , 1993, Pediatrics.

[9] M. Durán,et al. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis , 1988, Journal of Inherited Metabolic Disease.

[10] G. K. Noorden,et al. Benign recurrent VI nerve palsy in childhood. , 1981, Journal of pediatric ophthalmology and strabismus.