Publications by authors named "Dieter Koch"
Article Synopsis
- Phosphoglucomutase-1 deficiency (PGM1-CDG) is a type of genetic disorder, and a pilot study was conducted to evaluate the effects of oral D-galactose (D-gal) supplementation on nine patients with this condition.
- The study involved increasing D-gal intake to 1.5 g/kg/day over 18 weeks, monitoring safety and improvements in various health markers; results showed that eight patients had no adverse effects and experienced improvements in liver and coagulation function.
- In vitro tests demonstrated that D-gal treatment helped correct cellular glycosylation issues, improving overall glycoprotein profiles and suggesting that D-gal is a safe and effective treatment for PGM1
Article Synopsis
- - The study aimed to categorize patients with phosphoglucomutase-1 deficiency (PGM1-CDG) into phenotypic groups and identify factors predicting disease severity using the Tulane PGM1-CDG Rating Scale (TPCRS).
- - Researchers evaluated 27 patients, finding a significant difference in TPCRS scores across the phenotypic groups, but no correlation between genotype, enzyme activity, and the TPCRS score.
- - They identified five key clinical features—congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth—that can predict disease severity, with some assessable through physical examination for quicker diagnosis and treatment.
Hereditary combined deficiency of the vitamin K-dependent coagulation factors II, VII, IX, X, protein C, S and protein Z (VKCFD) is a very rare autosomal recessive inherited bleeding disorder. The phenotype may result from functional deficiency of either the gamma-glutamyl carboxylase (GGCX) or the vitamin K epoxide reductase (VKOR) complex. We report on the third case of VKCFD1 with mutations in the gamma-glutamyl carboxylase gene, which is remarkable because of compound heterozygosity.
View Article and Find Full Text PDFFor the basic instrumentation of the new research reactor FRM-II, Munich, a radiography/tomography facility using fast neutrons is under construction. The main features of the facility and results of simulation studies on characteristic parameters are presented.
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