| 1. |
- Uvebrant, Paul, 1951, et al.
(författare)
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Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis.
- 1993
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Ingår i: Prenatal diagnosis. - 0197-3851. ; 13:7, s. 651-7
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Tidskriftsartikel (refereegranskat)abstract
- A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52-95M1 (locus D16S148) and pCJ52-94T1 (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.
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| 2. |
- Wängberg, Bo, 1953, et al.
(författare)
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The role of gastric resection in the management of multicentric argyrophil gastric carcinoids.
- 1990
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Ingår i: Surgery. - 0039-6060. ; 108:5, s. 851-7
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Tidskriftsartikel (refereegranskat)abstract
- A patient with pernicious anemia, atrophic non-antral gastritis, hypergastrinemia, and widespread hyperplasia of enterochromaffin-like cells and manifest enterochromaffin-like cell carcinoma was followed up during 39 months, including 15 months after gastric resection. In this case normalization of gastrin levels did not prevent the development of multiple gastric carcinoids in the fundic mucosa, suggesting that factors other than gastrin are of importance in the pathogenesis.
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