Now showing items 1-2 of 2
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation
(Springer-Verlag, 2003-04)
A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria ...