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Results: 1-19 |
Results: 19
LETHAL AUTOSOMAL RECESSIVE SYNDROME WITH INTRAUTERINE GROWTH-RETARDATION, INTRAHEPATIC AND EXTRAHEPATIC BILIARY ATRESIA, AND ESOPHAGEAL ANDDUODENAL ATRESIA
Authors: ANNEREN G MEURLING S LILJA H WALLANDER J VONDOBELN U
Citation: G. Anneren et al., LETHAL AUTOSOMAL RECESSIVE SYNDROME WITH INTRAUTERINE GROWTH-RETARDATION, INTRAHEPATIC AND EXTRAHEPATIC BILIARY ATRESIA, AND ESOPHAGEAL ANDDUODENAL ATRESIA, American journal of medical genetics, 78(3), 1998, pp. 306-307
FATTY-ACID OXIDATION IN FIBROBLASTS FROM PATIENTS WITH DEFECTS IN BETA-OXIDATION AND IN THE RESPIRATORY-CHAIN
Authors: VENIZELOS N VONDOBELN U HAGENFELDT L
Citation: N. Venizelos et al., FATTY-ACID OXIDATION IN FIBROBLASTS FROM PATIENTS WITH DEFECTS IN BETA-OXIDATION AND IN THE RESPIRATORY-CHAIN, Journal of inherited metabolic disease, 21(4), 1998, pp. 409-415
BENEFITS OF NEONATAL SCREENING FOR CONGENITAL ADRENAL-HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) IN SWEDEN
Authors: THILEN A NORDENSTROM A HAGENFELDT L VONDOBELN U GUTHENBERG C LARSSON A
Citation: A. Thilen et al., BENEFITS OF NEONATAL SCREENING FOR CONGENITAL ADRENAL-HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) IN SWEDEN, Pediatrics, 101(4), 1998, pp. 111-115
TREATMENT OF ADRENOLEUKODYSTROPHY WITH BONE-MARROW TRANSPLANTATION
Authors: MALM G RINGDEN O ANVRET W VONDOBELN U HAGENFELDT L ISBERG B KNUUTILA S NENNESMO I WINIARSKI J MARCUS C
Citation: G. Malm et al., TREATMENT OF ADRENOLEUKODYSTROPHY WITH BONE-MARROW TRANSPLANTATION, Brain pathology, 7(4), 1997, pp. 1348-1348
TREATMENT OF ADRENOLEUKODYSTROPHY WITH BONE-MARROW TRANSPLANTATION
Authors: MALM G RINGDEN O ANVRET M VONDOBELN U HAGENFELDT L ISBERG B KNUUTILA S NENNESMO I WINIARSKI J MARCUS C
Citation: G. Malm et al., TREATMENT OF ADRENOLEUKODYSTROPHY WITH BONE-MARROW TRANSPLANTATION, Acta paediatrica, 86(5), 1997, pp. 484-492
CARBOHYDRATE-DEFICIENT TRANSFERRIN IN GALACTOSEMIA
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
LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH THEG1528C MUTATION - CLINICAL PRESENTATION OF 13 PATIENTS
Authors: TYNI T PALOTIE A VIINIKKA L VALANNE L SALO MK VONDOBELN U JACKSON S WANDERS R VENIZELOS N PIHKO H
Citation: T. Tyni et al., LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH THEG1528C MUTATION - CLINICAL PRESENTATION OF 13 PATIENTS, The Journal of pediatrics, 130(1), 1997, pp. 67-76
ANTIEPILEPTIC DRUG-TREATMENT DURING PREGNANCY AND NEONATAL SCREENING RESULTS
Authors: WIDE K WINBLADH B GUTHENBERG C VONDOBELN U
Citation: K. Wide et al., ANTIEPILEPTIC DRUG-TREATMENT DURING PREGNANCY AND NEONATAL SCREENING RESULTS, Acta paediatrica, 85(7), 1996, pp. 870-871
MUSCLE MORPHOLOGY AND MITOCHONDRIAL INVESTIGATIONS OF A FAMILY WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA AND RETINAL DEGENERATION MAPPED TOCHROMOSOME 3P12-P21.1
Authors: FORSGREN L LIBELIUS R HOLMBERG M VONDOBELN U WIBOM R HEIJBEL J SANDGREN O HOLMGREN G
Citation: L. Forsgren et al., MUSCLE MORPHOLOGY AND MITOCHONDRIAL INVESTIGATIONS OF A FAMILY WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA AND RETINAL DEGENERATION MAPPED TOCHROMOSOME 3P12-P21.1, Journal of the neurological sciences, 144(1-2), 1996, pp. 91-98
SEVERE MENTAL-RETARDATION IN 2-MONTH-OLD TO 24-MONTH-OLD CHILDREN IN LAHORE, PAKISTAN - A PROSPECTIVE COHORT STUDY
Authors: YAQOOB M BASHIR A TAREEN K GUSTAVSON KH NAZIR R JALIL F VONDOBELN U FERNGREN H
Citation: M. Yaqoob et al., SEVERE MENTAL-RETARDATION IN 2-MONTH-OLD TO 24-MONTH-OLD CHILDREN IN LAHORE, PAKISTAN - A PROSPECTIVE COHORT STUDY, Acta paediatrica, 84(3), 1995, pp. 267-272
CLINICAL AND BIOCHEMICAL PRESENTATION OF LONG-CHAIN 3-HYDROXYACYL-COADEHYDROGENASE-DEFICIENCY
Authors: HAGENFELDT L VENIZELOS N VONDOBELN U
Citation: L. Hagenfeldt et al., CLINICAL AND BIOCHEMICAL PRESENTATION OF LONG-CHAIN 3-HYDROXYACYL-COADEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 245-248
DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND THERAPEUTIC CONSIDERATIONS
Authors: KYLLERMAN M SKJELDAL OH LUNDBERG M HOLME I JELLUM E VONDOBELN U FOSSEN A CARLSSON G
Citation: M. Kyllerman et al., DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND THERAPEUTIC CONSIDERATIONS, Movement disorders, 9(1), 1994, pp. 22-30
CREATINE TREATMENT IN MELAS
Authors: HAGENFELDT L VONDOBELN U SOLDERS G KAIJSER L
Citation: L. Hagenfeldt et al., CREATINE TREATMENT IN MELAS, Muscle & nerve, 17(10), 1994, pp. 1236-1237
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE IN CHORIONIC VILLI, FETAL LIVER AND FIBROBLASTS AND PRENATAL-DIAGNOSIS OF 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: VONDOBELN U VENIZELOS N WESTGREN M HAGENFELDT L
Citation: U. Vondobeln et al., LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE IN CHORIONIC VILLI, FETAL LIVER AND FIBROBLASTS AND PRENATAL-DIAGNOSIS OF 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 17(2), 1994, pp. 185-188
THYMINE-URACILURIA - A DISEASE OR A FORTUITOUS FINDING
Authors: HAVERKORN C BLOMQUIST HK SNELLMAN K AHLMAN H VONDOBELN U HAGENFELDT L
Citation: C. Haverkorn et al., THYMINE-URACILURIA - A DISEASE OR A FORTUITOUS FINDING, Pediatric research, 36(1), 1994, pp. 10000018-10000018
GALACTOSEMIA CAUSED BY A POINT MUTATION THAT ACTIVATES CRYPTIC DONOR SPLICE-SITE IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE
Authors: WADELIUS C LAGERKVIST A MOLIN AK LARSSON A VONDOBELN U PETTERSSON U
Citation: C. Wadelius et al., GALACTOSEMIA CAUSED BY A POINT MUTATION THAT ACTIVATES CRYPTIC DONOR SPLICE-SITE IN THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE, Genomics, 17(2), 1993, pp. 525-526
FATTY-ACID OXIDATION DEFECTS
Authors: VONDOBELN U
Citation: U. Vondobeln, FATTY-ACID OXIDATION DEFECTS, Acta paediatrica, 82, 1993, pp. 88-90
CONSENSUS STATEMENT ON PATHOLOGY
Authors: HIRVONEN J GIDLUND E VONDOBELN U ROGNUM T
Citation: J. Hirvonen et al., CONSENSUS STATEMENT ON PATHOLOGY, Acta paediatrica, 82, 1993, pp. 91-92
FATAL NEONATAL LACTIC-ACIDOSIS WITH RESPIRATORY INSUFFICIENCY DUE TO COMPLEX-I AND COMPLEX-IV DEFICIENCY
Authors: VONDOBELN U WIBOM R AHLMAN H NENNESMO I NYCTELIUS H HULTMAN E HAGENFELDT L
Citation: U. Vondobeln et al., FATAL NEONATAL LACTIC-ACIDOSIS WITH RESPIRATORY INSUFFICIENCY DUE TO COMPLEX-I AND COMPLEX-IV DEFICIENCY, Acta paediatrica, 82(12), 1993, pp. 1079-1081
Risultati: 1-19 |