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Helena Stibler

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Disorders

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Peter J Radell; Lars Edström; Helena Stibler; Lars I Eriksson; Tor Ansved
Changes in diaphragm structure following prolonged mechanical ventilation in piglets.
Helena Stibler; Lars Edström; Karsten Ahlbeck; Sten Remahl; Tor Ansved
Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy.
Irina Mader; Marion Döbler-Neumann; Wilhelm Küker; Helena Stibler; Ingeborg Krägeloh-Mann
Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.

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2004: Peter J Radell; Lars Edström; Helena Stibler; Lars I Eriksson; Tor Ansved
Changes in diaphragm structure following prolonged mechanical ventilation in piglets.
Acta anaesthesiologica Scandinavica 2004;48(4):430-7.
2003: Helena Stibler; Lars Edström; Karsten Ahlbeck; Sten Remahl; Tor Ansved
Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy.
Intensive care medicine 2003;29(9):1515-27.
2002: Irina Mader; Marion Döbler-Neumann; Wilhelm Küker; Helena Stibler; Ingeborg Krägeloh-Mann
Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2002;18(1-2):77-80.
2001: Anna Erlandson; Cecilia Bjursell; Helena Stibler; Bengt Kristiansson; Jan Wahlström; Tommy Martinsson
Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.
Human genetics 2001;108(5):359-67.
2000: Cecilia Bjursell; Anna Erlandson; Margareta Nordling; Staffan Nilsson; Jan Wahlström; Helena Stibler; Bengt Kristiansson; Tommy Martinsson
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
Human mutation 2000;16(5):395-400.
2000: Anna Erlandson; Helena Stibler; Bengt Kristiansson; Jan Wahlström; Tommy Martinsson
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Genetic testing 2000;4(3):293-7.
1999: Helena Stibler; H Gylje; A Uller
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.
Neuropediatrics 1999;30(2):90-2.
1999: G B Van Setten; Lars Edström; Helena Stibler; S Rasmussen; Gregory Schultz
Levels of transforming growth factor alpha (TGF-alpha) in human cerebrospinal fluid.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 1999;17(2):131-4.
1998: Bengt Kristiansson; Helena Stibler; B Hagberg; Jan Wahlström
[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat].
Läkartidningen 1998;95(50):5742-8.
1998: Cecilia Bjursell; Jan Wahlström; K Berg; Helena Stibler; Bengt Kristiansson; Gert Matthijs; Tommy Martinsson
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.
European journal of human genetics : EJHG 1998;6(6):603-11.
1998: Susanne Kjaergaard; Bengt Kristiansson; Helena Stibler; Hudson H Freeze; Marianne Schwartz; Tommy Martinsson; Flemming Skovby
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(8):884-8.
1998: Bengt Kristiansson; S Borulf; Nils Conradi; C Erlanson-Albertsson; Walter Ryd; Helena Stibler
Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I.
Journal of pediatric gastroenterology and nutrition 1998;27(1):23-9.
1998: Bengt Kristiansson; Helena Stibler; Nils Conradi; Bengt O Eriksson; Walter Ryd
The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).
Journal of inherited metabolic disease 1998;21(2):112-24.
1998: Helena Stibler; U Holzbach; Bengt Kristiansson
Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.
Scandinavian journal of clinical and laboratory investigation 1998;58(1):55-61.
1997: Helena Stibler; Ulrika von Döbeln; Bengt Kristiansson; Claes Guthenberg
Carbohydrate-deficient transferrin in galactosaemia.
Acta paediatrica (Oslo, Norway : 1992) 1997;86(12):1377-8.
1997: JE Björklund; Helena Stibler; Bengt Kristiansson; SG Johansson; CG Magnusson
Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I.
International archives of allergy and immunology 1997;114(2):116-9.
1997: Cecilia Bjursell; Helena Stibler; Jan Wahlström; Bengt Kristiansson; Flemming Skovby; P Strömme; G Blennow; Tommy Martinsson
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.
Genomics 1997;39(3):247-53.
1996: Helena Stibler; U Holzbach; L Tengborn; Bengt Kristiansson
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1996;7(2):118-26.
1995: Helena Stibler; U Stephani; U Kutsch
Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.
Neuropediatrics 1995;26(5):235-7.
1995: Bengt Kristiansson; Helena Stibler; L Wide
Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome.
Acta paediatrica (Oslo, Norway : 1992) 1995;84(6):655-9.
1994: Tommy Martinsson; Cecilia Bjursell; Helena Stibler; Bengt Kristiansson; F Skovby; J Jaeken; G Blennow; P Strömme; F Hanefeld; Jan Wahlström
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.
Human molecular genetics 1994;3(11):2037-42.
1994: Helena Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.
Journal of neurology, neurosurgery, and psychiatry 1994;57(5):552-6.
1993: Helena Stibler
Diagnosis of alcohol-related neurological diseases by analysis of carbohydrate-deficient transferrin in serum.
Acta neurologica Scandinavica 1993;88(4):279-83.
1993: Helena Stibler; B Westerberg; F Hanefeld; B Hagberg
Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.
Neuropediatrics 1993;24(1):51-2.
1993: Helena Stibler; Lars Edström; A M Olsson
Improved electrophoretic method for the analysis of dystrophin in human muscle.
Scandinavian journal of clinical and laboratory investigation 1993;53(1):73-82.
1993: Helena Stibler; B Cederberg
Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots.
Acta paediatrica (Oslo, Norway : 1992) 1993;82(1):55-9.
1991: Helena Stibler; F Beaugé; A Leguicher; S Borg
Biophysical and biochemical alterations in erythrocyte membranes from chronic alcoholics.
Scandinavian journal of clinical and laboratory investigation 1991;51(4):309-19.
1991: Helena Stibler; S Borg
Glycoprotein glycosyltransferase activities in serum in alcohol-abusing patients and healthy controls.
Scandinavian journal of clinical and laboratory investigation 1991;51(1):43-51.
1991: Helena Stibler; S Borg; M Joustra
A modified method for the assay of carbohydrate-deficient transferrin (CDT) in serum.
Alcohol and alcoholism (Oxford, Oxfordshire). Supplement 1991;1():451-4.
1990: Helena Stibler; J Jaeken
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
Archives of disease in childhood 1990;65(1):107-11.
1989: F Beaugé; J Gallay; O Sydow; Helena Stibler
The physical state of the erythrocyte membrane in myotonic dystrophy.
Journal of the neurological sciences 1989;93(1):93-103.
1989: Helena Stibler; F Beaugé; A Bjørneboe; G Aufrère
Transferrin microheterogeneity in rats treated chronically with ethanol.
Pharmacology & toxicology 1989;64(4):383-5.
1988: F Beaugé; J Gallay; Helena Stibler; S Borg
Alcohol abuse increases the lipid structural order in human erythrocyte membranes. A steady-state and time-resolved anisotropy study.
Biochemical pharmacology 1988;37(20):3823-8.
1988: Helena Stibler; O Sydow
Sialyltransferase activity in erythrocyte membranes and serum in patients with myotonic dystrophy.
Acta neurologica Scandinavica 1988;78(4):278-81.
1988: Helena Stibler; S Borg; G Beckman
Transferrin phenotype and level of carbohydrate-deficient transferrin in healthy individuals.
Alcoholism, clinical and experimental research 1988;12(3):450-3.
1987: Helena Stibler; R Hultcrantz
Carbohydrate-deficient transferrin in serum in patients with liver diseases.
Alcoholism, clinical and experimental research 1987;11(5):468-73.
1987: F Beaugé; Helena Stibler; S Borg
Alterations of erythrocyte membrane organization in alcoholics.
Alcohol and alcoholism (Oxford, Oxfordshire). Supplement 1987;1():561-5.
1986: Helena Stibler; S Borg; M Joustra
Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5).
Alcoholism, clinical and experimental research 1986;10(5):535-44.
1985: O Sydow; Helena Stibler; R Hast
Abnormal erythrocyte survival in patients with myotonic dystrophy.
Acta neurologica Scandinavica 1985;72(5):522-4.
1985: F Beaugé; Helena Stibler; S Borg
Abnormal fluidity and surface carbohydrate content of the erythrocyte membrane in alcoholic patients.
Alcoholism, clinical and experimental research 1985;9(4):322-6.
1984: Helena Stibler; F Beaugé; S Borg
Changes in (Na+ + K+) ATPase activity and the composition of surface carbohydrates in erythrocyte membranes in alcoholics.
Alcoholism, clinical and experimental research 1984;8(6):522-7.
1984: Helena Stibler; O Sydow
Carbohydrate composition of erythrocyte membranes and glycosidase activities in serum in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia.
Journal of the neurological sciences 1984;63(3):285-98.
1984: Helena Stibler; S Borg; F Beaugé
Sialidase and beta-galactosidase activities in serum of alcoholic patients.
Drug and alcohol dependence 1984;13(2):205-8.
1983: Helena Stibler; O Sydow
The sialic acid and galactose concentrations in erythrocyte membranes in patients with myotonic dystrophy, limb-girdle and facioscapulohumeral dystrophy.
Journal of the neurological sciences 1983;59(3):389-99.
1983: F Beaugé; Helena Stibler; H Kalant
Brain synaptosomal (Na+ and K+)ATPase activity as an index of tolerance to ethanol.
Pharmacology, biochemistry, and behavior 1983;18 Suppl 1():519-24.
1980: O Beck; S Borg; B Holmstedt; Helena Stibler
Levels of 5-hydroxytryptophol in cerebrospinal fluid from alcoholics determined by gas chromatography-mass spectrometry.
Biochemical pharmacology 1980;29(5):693-6.
1980: Helena Stibler; O Sydow; S Borg
Quantitative estimation of abnormal microheterogeneity of serum transferrin in alcoholics.
Pharmacology, biochemistry, and behavior 1980;13 Suppl 1():47-51.

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