Zobrazeno 1 - 10
of 287
pro vyhledávání: '"H Stibler"'
Autor:
H. Stibler
Publikováno v:
Acta Neurologica Scandinavica. 88:279-283
Analysis of carbohydrate-deficient transferrin (CDT) in serum has been shown to be a good marker of current regular alcohol consumption at levels that are potentially harmful both to the liver and the nervous system. In this study CDT was analyzed by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb7eac0a31a752f250dd5d591d704587
https://doi.org/10.1111/j.1600-0404.1993.tb04236.x
https://doi.org/10.1111/j.1600-0404.1993.tb04236.x
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 27:23-29
Background: Children with carbohydrate-deficient glycoprotein syndrome type I during infancy have gastrointestinal symptoms and growth impairment. the cause of which is largely unknown. Methods: Seven children were investigated with small intestinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c552db7f992eb5f48b15a16987d8a11
https://doi.org/10.1097/00005176-199807000-00005
https://doi.org/10.1097/00005176-199807000-00005
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 58:55-62
Carbohydrate-deficient glycoprotein syndrome type I (CDGS I) is an autosomal recessive disease with multiple organ manifestations. The diagnostic biochemical marker has been typical carbohydrate-deficient isoforms of transferrin (Tf). Many other glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8426fb33b386dc07c941c0bd288f74ee
https://doi.org/10.1080/00365519850186832
https://doi.org/10.1080/00365519850186832
Publikováno v:
International Archives of Allergy and Immunology. 114:116-119
The characteristic feature of carbohydrate-deficient glycoprotein syndrome (CDGS) type I, a multisystemic disease, is underglycosylation of many serum glycoproteins, such as transferrin. A few cases of severe infections during childhood have been rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6eb186f2ba0b9552effc80e585d7cf0
https://doi.org/10.1159/000237655
https://doi.org/10.1159/000237655
Publikováno v:
Journal of Inherited Metabolic Disease. 14:385-388
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc6b2210550e22ee557e0b1d2f511b9
https://doi.org/10.1007/bf01811710
https://doi.org/10.1007/bf01811710
Autor:
H. Stibler, S. Borg
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 51:43-51
The activities of glycoprotein sialyl-, galactosyl- and N-acetylglucosaminyl-transferase in serum were examined in 14 alcoholic patients with a median BAC of 65 mmol/l and in 14 healthy age- and sex-matched controls. The median alcohol intake of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::380050044c6faf48954f3b2991f1b16a
https://doi.org/10.1080/00365513.1991.11978688
https://doi.org/10.1080/00365513.1991.11978688
Publikováno v:
Archives of Disease in Childhood. 65:107-111
Four patients with a new, inherited, complex developmental deficiency syndrome were studied. The syndrome affects the central and peripheral nervous system, and also the retina, liver, bone, adipose tissue, and genital organs. Abnormalities of glycop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4821c38b4594d02be9fcd2c0004a721c
https://doi.org/10.1136/adc.65.1.107
https://doi.org/10.1136/adc.65.1.107
Autor:
F. Guttierrez-Larraya, A. Chasco Yrigoyen, M. T. García Silva, J. de Castro, H. Stibler, R Simón, F Mateos, I. Ferrer, S. Madero, J. M. Velasco
Publikováno v:
Journal of Inherited Metabolic Disease. 19:257-259
Carbohydrate-deficient glycoprotein syndromes (CDGS) are a group of inherited metabolic diseases due to glycosylation defects of glycoproteins, mostly those of serum (Jaeken et al 1991). The most severe and multisystemic form presents neonatally. Maj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e5f46cf5b2e15e1fff8479c653db03
https://doi.org/10.1007/bf01799444
https://doi.org/10.1007/bf01799444
Autor:
H. Stibler, O. Sydow
Publikováno v:
Acta Neurologica Scandinavica. 69:178-179
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70134406b6d925f80001029d9859e536
https://doi.org/10.1111/j.1600-0404.1984.tb02426.x
https://doi.org/10.1111/j.1600-0404.1984.tb02426.x
Publikováno v:
Neuropediatrics. 30(2)
A 10-month old girl is described with a serum transferrin isoform abnormality of the same kind as in two previously reported girls with carbohydrate-deficient glycoprotein syndrome type III. This patient presented with joint abnormalities and rapidly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a8fb2f99c267b2b4a93e544b4f40dc
https://pubmed.ncbi.nlm.nih.gov/10401691
https://pubmed.ncbi.nlm.nih.gov/10401691