H. Stibler

发表

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families

G. Matthijs, C. Bjursell, J. Wahlström, 1998, European Journal of Human Genetics.

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families

S. Nilsson, C. Bjursell, J. Wahlström, 2000, Human mutation.

Carbohydrate-deficient glycoprotein syndrome type II

V. Ramaekers, P. Cock, J. Jaeken, 1993, Journal of Inherited Metabolic Disease.

Carbohydrate composition of serum transferrin in alcoholic patients.

S. Borg, H. Stibler, 1986, Alcoholism, clinical and experimental research.

Abnormal fluidity and surface carbohydrate content of the erythrocyte membrane in alcoholic patients.

S. Borg, H. Stibler, F. Beaugé, 1985, Alcoholism, clinical and experimental research.

Alcohol abuse increases the lipid structural order in human erythrocyte membranes. A steady-state and time-resolved anisotropy study.

S. Borg, J. Gallay, H. Stibler, 1988, Biochemical pharmacology.

Biophysical and biochemical alterations in erythrocyte membranes from chronic alcoholics.

S. Borg, H. Stibler, F. Beaugé, 1991, Scandinavian journal of clinical and laboratory investigation.

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

C. Bjursell, J. Wahlström, T. Martinsson, 2001, Human Genetics.

Carbohydrate-Deficient Glycoprotein (CDG) Syndrome - A New Variant, Type III

F. Hanefeld, B. Hagberg, H. Stibler, 1993, Neuropediatrics.

Carbohydrate-Deficient Glycoprotein Syndrome - A Fourth Subtype

U. Stephani, H. Stibler, U. Kutsch, 1995, Neuropediatrics.

Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy

L. Edström, T. Ansved, S. Remahl, 2003, Intensive Care Medicine.

Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse.

J. Jeppsson, A. Helander, H. Stibler, 2001, Clinical chemistry.

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

J. Jaeken, H. Carchon, J. Jaeken, 1993, Glycobiology.

Carbohydrate-deficient glycoprotein syndrome type II

P. de Cock, V. Ramaekers, P. Cock, 1993, Journal of Inherited Metabolic Disease.

Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish Patent 8400587-5).

S. Borg, H. Stibler, M. Joustra, 1986, Alcoholism, clinical and experimental research.

Changes in diaphragm structure following prolonged mechanical ventilation in piglets

L. Edström, L. Eriksson, T. Ansved, 2004, Acta anaesthesiologica Scandinavica.

Biochemical Characteristics and Diagnosis of the Carbohydrate‐deficient Glycoprotein Syndrome

J. Jaeken, B. Kristiansson, H. Stibler, 1991 .

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

F. Hanefeld, J. Jaeken, F. Skovby, 1994, Human molecular genetics.

Evidence of a reduced sialic acid content in serum transferrin in male alcoholics.

S. Borg, H. Stibler, 1981, Alcoholism, clinical and experimental research.

A modified method for the assay of carbohydrate-deficient transferrin (CDT) in serum.

S. Borg, H. Stibler, M. Joustra, 1991, Alcohol and alcoholism (Oxford, Oxfordshire). Supplement.

Transferrin phenotype and level of carbohydrate-deficient transferrin in healthy individuals.

G. Beckman, S. Borg, H. Stibler, 1988, Alcoholism, clinical and experimental research.

Direct immunofixation after isoelectric focusing An improved method for identification of cerebrospinal fluid and serum proteins

H. Stibler, 1979, Journal of the Neurological Sciences.

Determination of terminal sugars in transferrin by radio-lectin immunoassay (RLIA)-a new microanalytical procedure.

S. Borg, C. Cerven, H. Stibler, 1981, Upsala journal of medical sciences.

Quantitative estimation of abnormal microheterogeneity of serum transferrin in alcoholics

S. Borg, O. Sydow, H. Stibler, 1980, Pharmacology Biochemistry and Behavior.

Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

B. Kristiansson, H. Stibler, U. Holzbach, 1998, Scandinavian journal of clinical and laboratory investigation.

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

B. Hagberg, B. Kristiansson, H. Stibler, 1994, Journal of neurology, neurosurgery, and psychiatry.

AN APPARENT HOMOZYGOUS X-LINKED DISORDER WITH CARBOHYDRATE-DEFICIENT SERUM GLYCOPROTEINS

E. Eggermont, J. Jaeken, H. Stibler, 1987, The Lancet.

A Newly Recognized Inherited Neurological Disease with Carbohydrate Deficient Secretory Glycoproteins

J. Jaeken, H. Stibler, 1989 .

Levels of transforming growth factor alpha (TGF-a)in human cerebrospinal fluid

L. Edström, G. Schultz, H. Stibler, 1999, International Journal of Developmental Neuroscience.

Carbohydrate-Deficient Transferrin and 5-Hydroxytryptophol

S. Borg, A. Helander, O. Beck, 1992 .

Glycoprotein sialyl- and galactosyl transferase activities in erythrocyte membranes in alcoholic patients and healthy controls.

S. Borg, H. Stibler, 1986, Drug and alcohol dependence.

Changes in (Na+ + K+) ATPase activity and the composition of surface carbohydrates in erythrocyte membranes in alcoholics.

S. Borg, H. Stibler, F. Beaugé, 1984, Alcoholism, clinical and experimental research.

Sialidase and β-galactosidase activities in serum of alcoholic patients

S. Borg, H. Stibler, F. Beaugé, 1984 .

Effect of ethanol on synaptosomal sialic acid metabolism in the developing rat brain

B. Tabakoff, E. Burns, T. Kruckeberg, 1983, Journal of the Neurological Sciences.

Reduction of the sialic acid and galactose concentrations in erythrocyte membranes in alcoholics.

S. Borg, H. Stibler, 1982, Drug and alcohol dependence.

The normal cerebrospinal fluid proteins identified by means of thin-layer isoelectric focusing and crossed immunoelectrofocusing

H. Stibler, 1978, Journal of Neurological Sciences.

Quantitation of a qualitative change of transferrin heterogeneity in alcoholics

S. Borg, O. Sydow, H. Stibler, 1980 .

Analysis of Transferrin and α1‐Fetoprotein in Amniotic Fluid and Neonatal Serum: a Possible Means for Indirect Prenatal Diagnosis of the Carbohydrate‐deficient Glycoprotein Syndrome

B. Kristiansson, H. Stibler, 1991 .

Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndrome

L. Wide, B. Kristiansson, H. Stibler, 1995, Acta paediatrica.

Glycoprotein glycosyltransferase activities in serum in alcohol-abusing patients and healthy controls.

S. Borg, H. Stibler, 1991, Scandinavian journal of clinical and laboratory investigation.

Carbohydrate-deficient transferrin in serum in patients with liver diseases.

R. Hultcrantz, H. Stibler, Helena Stibler, 1987, Alcoholism, clinical and experimental research.

Carbohydrate-deficient transferrin (CDT) in serum in women with early alcohol addiction.

S. Borg, H. Stibler, L. Dahlgren, 1988, Alcohol.

Clinical significance of abnormal heterogeneity of transferrin in relation to alcohol consumption.

C. Allgulander, S. Borg, H. Stibler, 2009, Acta medica Scandinavica.

Abnormal microheterogeneity of transferrin in serum and cerebrospinal fluid in alcoholism.

C. Allgulander, S. Borg, H. Stibler, 2009, Acta medica Scandinavica.

Crossed immunoelectrofocusing for identification of normal and abnormal cerebrospinal fluid proteins A preliminary report

H. Stibler, 1977, Journal of the Neurological Sciences.

Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption reviewed.

H Stibler, H. Stibler, 1991, Clinical chemistry.

Carbohydrate composition of erythrocyte membranes and glycosidase activities in serum in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia

O. Sydow, H. Stibler, 1984, Journal of the Neurological Sciences.

The sialic acid and galactose concentrations in erythrocyte membranes in patients with myotonic dystrophy, limb-girdle and facioscapulohumeral dystrophy

O. Sydow, H. Stibler, 1983, Journal of the Neurological Sciences.

Sialyltransferase activity in erythrocyte membranes and serum in patients with myotonic dystrophy

O. Sydow, H. Stibler, 1988, Acta neurologica Scandinavica.

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

J. Jaeken, H. Stibler, 1990, Archives of disease in childhood.

Transferrin microheterogeneity in rats treated chronically with ethanol.

H. Stibler, F. Beaugé, G. Aufrère, 1989, Pharmacology & toxicology.

Subtypes of transferrin C.

G. Beckman, H. Stibler, C. Silkström, 1979, Human heredity.

Improved electrophoretic method for the analysis of dystrophin in human muscle.

L. Edström, A. Olsson, H. Stibler, 1993, Scandinavian journal of clinical and laboratory investigation.

The effects of ethanol exposure during the brain growth spurt in rats.

E. Burns, T. Kruckeberg, S. Borg, 1984, Teratology.

Isoelectric focusing and electrophoresis of cerebro-spinal fluid proteins in muscular dystrophies and spinal muscular atrophies

H. Stibler, K. Kjellin, 1976, Journal of the Neurological Sciences.

Abnormal erythrocyte survival in patients with myotonic dystrophy

O. Sydow, H. Stibler, R. Hast, 1985, Acta neurologica Scandinavica.

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

J. Jaeken, B. Hagberg, J. Jaeken, 1991, Acta paediatrica Scandinavica. Supplement.

Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

B. Hagberg, B. Kristiansson, H. Stibler, 1993, Pediatric neurology.

Cerebrospinal fluid protein patterns in spasmodic torticollis.

H. Stibler, K. Kjellin, 1975, European neurology.

Isoelectric focusing and electrophoresis of the CSF proteins in tremor of different origins A study of 38 cases with the cerebellar syndrome of chronic alcoholism, Parkinson's disease and essential tremor

H. Stibler, K. Kjellin, 1976, Journal of the Neurological Sciences.

Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia

H. Stibler, K. Kjellin, 1975, Journal of the Neurological Sciences.

Protein pattern of cerebrospinal fluid in spasmodic torticollis

H. Stibler, K. Kjellin, 1974, Journal of neurology, neurosurgery, and psychiatry.

CSF-Protein Patterns in Extrapyramidal Diseases

H. Stibler, K. Kjellin, 1974 .

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)

N. Conradi, B. Eriksson, W. Ryd, 1998, Journal of Inherited Metabolic Disease.

Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant

I. Mader, I. Krägeloh-Mann, W. Küker, 2002, Child's Nervous System.

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

M. Pineda, J. Jaeken, M. Vilaseca, 1996, Archives of disease in childhood.

The physical state of the erythrocyte membrane in myotonic dystrophy

J. Gallay, O. Sydow, H. Stibler, 1989, Journal of the Neurological Sciences.

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

H. Stibler, F. Mateos, I. Ferrer, 1996, Journal of Inherited Metabolic Disease.

Complex functional and structural coagulation abnormalities in the carbohydrate‐deficient glycoprotein syndrome type I

L. Tengborn, B. Kristiansson, H. Stibler, 1996, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

F. Skovby, M. Petersen, H. Stibler, 1993, The Journal of pediatrics.

Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I.

N. Conradi, C. Erlanson‐Albertsson, W. Ryd, 1997, Journal of pediatric gastroenterology and nutrition.

Immunoglobulin levels in patients with carbohydrate-deficient glycoprotein syndrome type I.

S. Johansson, C. G. Magnusson, B. Kristiansson, 1997, International archives of allergy and immunology.

Serum protein binding of lead in vitro in amyotrophic lateral sclerosis patients and controls

L. Ronnevi, H. Stibler, S. Conradi, 1978, Journal of the Neurological Sciences.

GLYCOCONJUGATE ABNORMALITIES IN ERYTHROCYTE MEMBRANES IN PATIENTS WITH SOME INHERITED MUSCULAR DISEASES

O. Sydow, H. Stibler, 1984 .

Levels of 5-hydroxytryptophol in cerebrospinal fluid from alcoholics determined by gas chromatography-mass spectrometry.

S. Borg, O. Beck, H. Stibler, 1980, Biochemical pharmacology.

Ethanol exposure during brain ontogeny: some long-term effects.

E. Burns, T. Kruckeberg, H. Stibler, 1986, Neurobehavioral toxicology and teratology.

Brain synaptosomal (Na+ and K+)ATPase activity as an index of tolerance to ethanol

H. Kalant, H. Stibler, F. Beaugé, 1983, Pharmacology Biochemistry and Behavior.

A new variant of the carbohydrate deficient glycoproteins syndrome

V. Ramaekers, J. Jaeken, J. Kint, 1991, Journal of Inherited Metabolic Disease.

Diagnosis of the carbohydrate‐deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots

H. Stibler, Birgitta Cederberg, 1993, Acta paediatrica.

Failure of short‐term mannose therapy of patients with carbohydrate‐deficient glycoprotein syndrome type 1A

H. Freeze, M. Schwartz, S. Kjaergaard, 1998, Acta paediatrica.

Carbohydrate‐deficient transferrin in galactosaemia

C. Guthenberg, U. Döbeln, B. Kristiansson, 1997, Acta paediatrica.

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally.

F. Skovby, H. Stibler, 1994, Pediatric neurology.

Detection of relapses in alcohol-dependent patients: comparison of carbohydrate-deficient transferrin in serum, 5-hydroxytryptophol in urine, and self-reports.

A. Hiltunen, S. Borg, O. Beck, 1993, Alcoholism, clinical and experimental research.

Diagnosis of alcohol‐related neurological diseases by analysis of carbohydrate‐deficient transferrin in serum

H. Stibler, 1993, Acta neurologica Scandinavica.

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.

F. Skovby, C. Bjursell, J. Wahlström, 1997, Genomics.

The Birth and Infancy of a New Disease: The Carbohydrate-Deficient Glycoprotein Syndrome

B. Hagberg, H. Stibler, G. Blennow, 1992 .

Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.

J. Wahlström, T. Martinsson, B. Kristiansson, 2000, Genetic Testing.

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

B. Hagberg, B. Kristiansson, H. Stibler, 1994, Journal of neurology, neurosurgery, and psychiatry.

ABNORMAL HETEROGENEITY OF SERUM TRANSFERRIN—A NEW DIAGNOSTIC MARKER OF ALCOHOLISM?

C. Allgulander, S. Borg, H. Stibler, 1980, Acta psychiatrica Scandinavica. Supplementum.