Search Results - "Stibler, H"

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

“…Isoforms of transferrin interfere with measurement of carbohydrate-deficient transferrin (CDT) as a marker of heavy alcohol consumption. We evaluated the rate…”
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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.

“…Background:  Prolonged mechanical ventilation and inactivity negatively affect muscle function. The mechanisms for this dysfunction are unclear and clinical…”
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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

“…A new group of recessively inherited metabolic disorders affecting glycoprotein metabolism has been identified--the carbohydrate-deficient-glycoprotein (CDG)…”
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Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome by Stibler, H, Jaeken, J

“…Four patients with a new, inherited, complex developmental deficiency syndrome were studied. The syndrome affects the central and peripheral nervous system,…”
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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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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

“…Congenital disorders of glycosylation type Ia, (previous name carbohydrate-deficient glycoprotein syndrome type Ia; CDG-Ia) is an inherited disorder of the…”
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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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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…”
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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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Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome by Kristiansson, B, Stibler, H, Wide, L

“…Six females and six males with carbohydrate-deficient glycoprotein (CDG) syndrome type I, aged 4 months to 43 years, were examined for gonadal function and…”
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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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Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I by Stibler, H, Holzbach, U, Tengborn, L, Kristiansson, B

“…Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisystemic manifestations. During childhood the patients…”
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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…”
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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…”
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A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III by Stibler, H, Gylje, H, Uller, A

“…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…”
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The normal cerebrospinal fluid proteins identified by means of thin-layer isoelectric focusing and crossed immunoelectrofocusing by Stibler, H

“…The cerebrospinal fluid and serum proteins from 32 healthy individuals have been examined by isoelectric focusing in a pH-gradient from 3.5--11.0. Seventeen…”
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The heart and pericardial effusions in CDGS‐I (carbohydrate‐deficient glycoprotein syndrome type I) by Kristiansson, B., Stibler, H., Conradi, N., Eriksson, B. O., Ryd, W.

“…Pericardial effusions were found in 6 of 10 children with carbohydrate‐deficient glycoprotein syndrome type I (CDGS‐I). In three cases pericardectomy was…”
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Detection of relapses in alcohol-dependent patients: comparison of carbohydrate-deficient transferrin in serum, 5-hydroxytryptophol in urine, and self-reports by Carlsson, A V, Hiltunen, A J, Beck, O, Stibler, H, Borg, S

“…In this study, detection of relapses in male alcohol-dependent patients by biochemical markers and self-reports of alcohol consumption were examined. The…”
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Direct immunofixation after isoelectric focusing. An improved method for identification of cerebrospinal fluid and serum proteins by Stibler, H

“…An improved method for identification of CSF and serum proteins is described, using analytical isoelectric focusing followed by direct immunofixation in…”
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Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome by Pineda, M, Pavia, C, Vilaseca, M A, Ferrer, I, Temudo, T, Chabas, A, Stibler, H, Jaeken, J

“…A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually,…”
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