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Results:
1-21
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Results: 21
Authors:
KJAERGAARD S
KRISTIANSSON B
STIBLER H
FREEZE HH
SCHWARTZ M
MARTINSSON T
SKOVBY F
Citation: S. Kjaergaard et al., FAILURE OF SHORT-TERM MANNOSE THERAPY OF PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE 1A, Acta paediatrica, 87(8), 1998, pp. 884-888
Authors:
KRISTIANSSON B
BORULF S
CONRADI N
ERLANSONALBERTSSON C
RYD W
STIBLER H
Citation: B. Kristiansson et al., INTESTINAL, PANCREATIC AND HEPATIC INVOLVEMENT IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I, Journal of pediatric gastroenterology and nutrition, 27(1), 1998, pp. 23-29
Authors:
KRISTIANSSON B
STIBLER H
CONRADI N
ERIKSSON BO
RYD W
Citation: B. Kristiansson et al., THE HEART AND PERICARDIAL-EFFUSIONS IN CDGS-I (CARBOHYDRATE-DEFICIENTGLYCOPROTEIN SYNDROME TYPE-I), Journal of inherited metabolic disease, 21(2), 1998, pp. 112-124
Authors:
STIBLER H
HOLZBACH U
KRISTIANSSON B
Citation: H. Stibler et al., 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 & laboratory investigation, 58(1), 1998, pp. 55-61
Authors:
BJORKLUND JEM
STIBLER H
KRISTIANSSON B
JOHANSSON SGO
MAGNUSSON CGM
Citation: Jem. Bjorklund et al., IMMUNOGLOBULIN LEVELS IN PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I, International archives of allergy and immunology, 114(2), 1997, pp. 116-119
Authors:
BJURSELL C
STIBLER H
WAHLSTROM J
KRISTIANSSON B
SKOVBY F
STROMME P
BLENNOW G
MARTINSSON T
Citation: C. Bjursell et al., FINE MAPPING OF THE GENE FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I (CDG1) - LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT IN SCANDINAVIAN FAMILIES, Genomics, 39(3), 1997, pp. 247-253
Authors:
STIBLER H
VONDOBELN U
KRISTIANSSON B
GUTHENBERG C
Citation: H. Stibler et al., CARBOHYDRATE-DEFICIENT TRANSFERRIN IN GALACTOSEMIA, Acta paediatrica, 86(12), 1997, pp. 1377-1378
Authors:
BJURSELL C
WAHLSTROM J
STIBLER H
KRISTIANSSON B
MATTHIJS G
MARTINSSON T
Citation: C. Bjursell et al., PRENATAL DIAGNOSTIC-TOOLS FOR ANALYSIS OF SCANDINAVIAN CDG TYPE-I PATIENTS, American journal of human genetics, 61(4), 1997, pp. 839-839
Authors:
STIBLER H
HOLZBACH U
TENGBORN L
KRISTIANSSON B
Citation: H. Stibler et al., COMPLEX FUNCTIONAL AND STRUCTURAL COAGULATION ABNORMALITIES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I, Blood coagulation & fibrinolysis, 7(2), 1996, pp. 118-126
Authors:
SILVA MTG
DECASTRO J
STIBLER H
SIMON R
YRIGOYEN AC
MATEOS F
FERRER I
MADERO S
VELASCO JM
GUTTIERREZLARRAYA F
Citation: Mtg. Silva et al., PRENATAL HYPERTROPHIC CARDIOMYOPATHY AND PERICARDIAL-EFFUSION IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 19(2), 1996, pp. 257-259
Authors:
PINEDA M
PAVIA C
VILASECA MA
FERRER I
TEMUDO T
CHABAS A
STIBLER H
JAEKEN J
Citation: M. Pineda et al., NORMAL PUBERTAL DEVELOPMENT IN A FEMALE WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Archives of Disease in Childhood, 74(3), 1996, pp. 242-243
GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME
Authors:
KRISTIANSSON B
STIBLER H
WIDE L
Citation: B. Kristiansson et al., GONADAL-FUNCTION AND GLYCOPROTEIN HORMONES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN (CDG) SYNDROME, Acta paediatrica, 84(6), 1995, pp. 655-659
Authors:
STIBLER H
STEPHANI U
KUTSCH U
Citation: H. Stibler et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - A 4TH SUBTYPE, Neuropediatrics, 26(5), 1995, pp. 235-237
Authors:
MARTINSSON T
BJURSELL C
STIBLER H
KRISTIANSSON B
SKOVBY F
JAEKEN J
BLENNOW G
STROMME P
HANEFELD F
WAHLSTROM J
Citation: T. Martinsson et al., 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, 3(11), 1994, pp. 2037-2042
Authors:
STIBLER H
SKOVBY F
Citation: H. Stibler et F. Skovby, FAILURE TO DIAGNOSE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME PRENATALLY, Pediatric neurology, 11(1), 1994, pp. 71-71
Authors:
STIBLER H
BLENNOW G
KRISTIANSSON B
LINDEHAMMER A
HAGBERG B
Citation: H. Stibler et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME - CLINICAL EXPRESSION INADULTS WITH A NEW METABOLIC DISEASE, Journal of Neurology, Neurosurgery and Psychiatry, 57(5), 1994, pp. 552-556
Authors:
JAEKEN J
CARCHON H
STIBLER H
Citation: J. Jaeken et al., THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PRE-GOLGI AND GOLGI DISORDERS, Glycobiology, 3(5), 1993, pp. 423-428
Authors:
HAGBERG BA
BLENNOW G
KRISTIANSSON B
STIBLER H
Citation: Ba. Hagberg et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES - PECULIAR GROUP OF NEWDISORDERS, Pediatric neurology, 9(4), 1993, pp. 255-262
Authors:
JAEKEN J
DECOCK P
STIBLER H
VANGEET C
KINT J
RAMAEKERS V
CARCHON H
Citation: J. Jaeken et al., CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-II, Journal of inherited metabolic disease, 16(6), 1993, pp. 1041-1041
Authors:
STIBLER H
Citation: H. Stibler, DIAGNOSIS OF ALCOHOL-RELATED NEUROLOGICAL DISEASES BY ANALYSIS OF CARBOHYDRATE-DEFICIENT TRANSFERRIN IN SERUM, Acta neurologica Scandinavica, 88(4), 1993, pp. 279-283
Authors:
ANDREASSON S
STIBLER H
BLENNOW G
EHINGER B
Citation: S. Andreasson et al., SERUM TRANSFERRIN IN PATIENTS WITH RETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 33(4), 1992, pp. 839-839
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1-21
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