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Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease of heme metabolism caused by mutations in the hydroxymethylbilane synthase gene. Diagnosing AIP during an acute attack using traditional biochemical markers is unproblematic, but it can be difficult to obtain a definite diagnosis in asymptomatic carriers. These limitations may,(More)
In a consecutive series of 62 patients with renal carcinoma transvascular embolization has been evaluated in regard to its limitations, complications, influence on the surgical procedure and success of treatment. Of 47 planned embolizations 36 could be accomplished. Total embolization was achieved in 29 of the 36 cases (81 per cent). One case was(More)
Familial defective apolipoprotein B (FDB) is a clinical condition resembling familial hypercholesterolemia. The underlying genetic defects are mutations in the apolipoprotein B-100 (apo B-100) gene. Two mutations (Arg3500 --> Gln and Arg3531 --> Cys) are known to date. We designed a denaturing gradient-gel electrophoresis (DGGE) technique to detect sequence(More)
Mutations in the LDL receptor (LDLR) gene and the codon 3500 region of the apolipoprotein (apo) B-100 gene result in the clinically indistinguishable phenotypes designated familial hypercholesterolemia (FH) and familial defective apo B-100 (FDB), respectively. Introduction of genetic diagnosis in phenotypic FH families may remove the diagnostic inaccuracies(More)
Renal malignancy occurring in polycystic kidneys is a rare combination normally thought of as fortuitous. We describe a patient suffering from Lindau's disease, who also had polycystic kidneys and renal carcinoma. On the basis of this case and a review of the literature for similar cases we conclude that the only possibility of outlining a high risk group(More)
We have recently developed a simple mutation screening assay based on the denaturing gradient gel electrophoresis (DGGE) technique for detection of mutations in the coding and regulatory regions of the low density lipoprotein receptor (LDLR) gene and the codon 3500 region of the apolipoprotein (apo) B-100 gene leading to familial hypercholesterolemia (FH)(More)
Urinary acidification ability, acid-base status and urinary excretion of calcium and citrate were evaluated in 10 women with bilateral medullary sponge kidney (MSK) and in 10 healthy women. Patients with MSK had higher fasting urine pH compared to normal controls (p < 0.01). Four patients had incomplete renal tubular acidiosis (iRTA), 3 had hypercalciuria,(More)
General features. Haemangiomas are benign vascular tumours. They can regress spontaneously as a result of fibrosclerosis, suggesting a conservative approach wherever possible. Asymptomatic haemangiomas do not require treatment. Renal haemangioma. In all, 198 cases have been reported. The lesion is usually solitary and unilateral and occurs most often in the(More)
On the basis of a retrospective study of 61 cases of carcinoma of the prostate, it is attempted to evaluate the prognosis, either by way of a clinical classification into stages or by histological grading. Both types showed a clear-cut correlation with the prognosis. Collation of the clinical classification into stages and the histological grading of the(More)