Search Results - Stibler, H*

Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption reviewed by Stibler, H

“…During the last 16 years an increasing number of studies have indicated a new diagnostic marker of alcohol abuse, unrelated to any of the conventional markers…”
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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome by Stibler, H, Jaeken, J

“… Abnormalities of glycoproteins, glycopeptide hormones, and lipids have been found in serum from these patients, the most pronounced being increased cathodal forms of transferrin…”
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Interference of Transferrin Isoform Types with Carbohydrate-deficient Transferrin Quantification in the Identification of Alcohol Abuse by Helander, Anders, Eriksson, Gunne, Stibler, Helena, Jeppsson, Jan-Olof

“…) and from 6 healthy carriers of CDG Ia. The CDTect, %CDT-TIA, and new %CDT immunoassays were compared with HPLC (%CDT-HPLC…”
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The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? by Jaeken, J, Carchon, H, Stibler, H

“… The deficiency of sialic acid, in particular, results in a cathodal shift and hence the presence of abnormal isoforms of transferrin with higher…”
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Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome by Kristiansson, B, Stibler, H, Wide, L

“…: FSH, LH, TSH and erythropoietin. The female patients had a hypergonadotrophic hypogonadism from an early age without detectable ovaries in three cases…”
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Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III by Stibler, H, Westerberg, B, Hanefeld, F, Hagberg, B

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A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III by Stibler, H, Gylje, H, Uller, A

“… This patient presented with joint abnormalities and rapidly developing hypsarrhythmia, hypotonia, psychomotor delay and growth retardation…”
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Glycoprotein glycosyltransferase activities in serum in alcohol-abusing patients and healthy controls by Stibler, H, Borg, S

“…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…”
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Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally by Stibler, H, Skovby, F

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Diagnosis of alcohol-related neurological diseases by analysis of carbohydrate-deficient transferrin in serum by Stibler, H

“…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…”
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Changes in diaphragm structure following prolonged mechanical ventilation in piglets by Radell, P., Edström, L., Stibler, H., Eriksson, L. I., Ansved, T.

“… Five control animals were ventilated for only 4–6 h following surgical preparation. Diaphragm biopsies were obtained from the left costal region at the end of all experiments. Results…”
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Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease by Stibler, H, Blennow, G, Kristiansson, B, Lindehammer, H, Hagberg, B

“… Here the course and clinical expression of CDG syndrome type I in 13 patients who have passed the age of 15 years are described…”
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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype by Stibler, H, Stephani, U, Kutsch, U

“…Two infants are described, who, we suggest, represent a fourth subtype of carbohydrate-deficient glycoprotein (CDG) syndrome. Both patients showed microcephaly…”
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Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations by ERLANDSON, Anna, BJURSELL, Cecilia, STIBLER, Helena, KRISTIANSSON, Bengt, WAHLSTRÖM, Jan, MARTINSSON, Tommy

“… However, patients carrying the mutation 548T-->C had less severe…”
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Isoforms and levels of transferrin, antithrombin, α1-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I by STIBLER, H, HOLZBACH, U, KRISTIANSSON, B

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Biophysical and biochemical alterations in erythrocyte membranes from chronic alcoholics by Stibler, H, Beaugé, F, Leguicher, A, Borg, S

“…Erythrocyte membranes from healthy controls and alcoholic patients, examined within 24 h of abstinence, were studied for basal membrane fluidity and membrane sensitivity to ethanol by fluorescence…”
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Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I by Stibler, H, Holzbach, U, Tengborn, L, Kristiansson, B

“… During childhood the patients may suffer from hemorrhages, which may be lethal, venous thromboses and stroke-like episodes…”
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Carbohydrate-deficient transferrin in galactosaemia by Stibler, H., von Döbeln, U., Kristiansson, B., Guthenberg, C.

“…Carbohydrate‐deficient isoforms of transferrin (CDT) were examined in Guthrie cards from patients with galactosaemia before and during dietary treatment for up…”
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A modified method for the assay of carbohydrate-deficient transferrin (CDT) in serum by Stibler, H, Borg, S, Joustra, M

“…CDT has been shown to be a good marker of regular high alcohol intake. It has been measured principally by isoelectric focusing or pH-based anion exchange chromatography…”
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Early manifestations of the carbohydrate-deficient glycoprotein syndrome by Petersen, M B, Brostrøm, K, Stibler, H, Skovby, F

“…, hypotonia, esotropia, inverted nipples, lipodystrophy, pericardial effusion, and hepatic dysfunction…”
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