Zobrazeno 1 - 5
of 5
pro vyhledávání: '"N. U. Bosshard"'
Publikováno v:
Journal of inherited metabolic disease. 30(6)
Summary An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other typ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2721ee85aa345c871c924a6f1bf85cf4
https://pubmed.ncbi.nlm.nih.gov/17994282
https://pubmed.ncbi.nlm.nih.gov/17994282
Autor:
Rita Barone, N U Bosshard, Lorenzo Pavone, Agata Fiumara, R Gitzelmann, Jacques Jaeken, Els Jansen, Hubert Carchon
Publikováno v:
Journal of inherited metabolic disease. 21(2)
From 10 patients with carbohydrate-deficient glycoprotein (CDG) syndrome due to phosphomannomutase (PMM) deficiency, out of 10 lysosomal enzymes, 7 enzyme activities were measured in serum and 9 in leukocytes. In serum there was a 2-fold to 4-fold in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f7401585a807305c2acd616463d82b
https://pubmed.ncbi.nlm.nih.gov/9584269
https://pubmed.ncbi.nlm.nih.gov/9584269
Publikováno v:
Schweizerische medizinische Wochenschrift. 126(18)
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23b1a81c8f15cb7de518156bca26c943
https://pubmed.ncbi.nlm.nih.gov/8693300
https://pubmed.ncbi.nlm.nih.gov/8693300
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 59(5)
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470fa7052ae1b241a3a7f13dc86034f7
https://pubmed.ncbi.nlm.nih.gov/8530938
https://pubmed.ncbi.nlm.nih.gov/8530938
Autor:
H. R. Buser, N. U. Bosshard, Fritz Raschdorf, J. Hurter, M. W. Kozlowski, J. Schreiber, E. Schlumpf, E. F. Boller, R. Dahinden, Wilhelm J. Richter, L. Damm, R. Schöni, Hans Fritz, B. Blattmann, E. Städler
Publikováno v:
Experientia. 43:157-164
An oviposition-deterring pheromone (ODP) of the European cherry fruit flyRhagoletis cerasi L. was isolated from faeces using cellulose and several reverse phase TLC and HPLC procedures. The biological activity was evaluated by means of behavior tests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::828b77e8882d9b7969f4096dc326fd86
https://doi.org/10.1007/bf01942834
https://doi.org/10.1007/bf01942834