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Results: 1-8 |
Results: 8
DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IA - DNA-ANALYSIS OF LEUKOCYTES AS AN ALTERNATIVE TO THE ENZYME ASSAY IN A LIVER-BIOPSY SPECIMEN
Authors: MATERN D LANG C BECK S BRANDIS M SEYDEWITZ HH
Citation: D. Matern et al., DIAGNOSIS OF GLYCOGEN-STORAGE-DISEASE TYPE IA - DNA-ANALYSIS OF LEUKOCYTES AS AN ALTERNATIVE TO THE ENZYME ASSAY IN A LIVER-BIOPSY SPECIMEN, Monatsschrift fur Kinderheilkunde, 146(7), 1998, pp. 660-664
DISTINCT SPECTRUM OF CFTR GENE-MUTATIONS IN CONGENITAL ABSENCE OF VAS-DEFERENS
Authors: DORK T DWORNICZAK B AULEHLASCHOLZ C WIECZOREK D BOHM I MAYEROVA A SEYDEWITZ HH NIESCHLAG E MESCHEDE D HORST J PANDER HJ SPERLING H RATJEN F PASSARGE E SCHMIDTKE J STUHRMANN M
Citation: T. Dork et al., DISTINCT SPECTRUM OF CFTR GENE-MUTATIONS IN CONGENITAL ABSENCE OF VAS-DEFERENS, Human genetics, 100(3-4), 1997, pp. 365-377
HEMODIALYSIS OR HEMOFILTRATION AS TREATME NT OF ACUTE HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF METABOLISM IN NEONATES AND INFANTS
Authors: ERMISCH B HILDEBRANDT F ZIMMERHACKL LB POHL M GORDJANI N NIEDERHOFF H MATERN D SEYDEWITZ HH LEHNERT W LEITITIS JU BRANDIS M
Citation: B. Ermisch et al., HEMODIALYSIS OR HEMOFILTRATION AS TREATME NT OF ACUTE HYPERAMMONEMIC COMA CAUSED BY INBORN-ERRORS OF METABOLISM IN NEONATES AND INFANTS, Monatsschrift fur Kinderheilkunde, 145(7), 1997, pp. 714-718
THERAPY MONITORING OF BRONCHIAL-ASTHMA IN CHILDREN WITH THE MEASUREMENT OF URINARY EOSINOPHIL PROTEIN-X IN CHILDREN
Authors: KOPP M FORSTER J VANSGRAVESANDE KS SEYDEWITZ HH BUROW G BRANDIS M KUHR J
Citation: M. Kopp et al., THERAPY MONITORING OF BRONCHIAL-ASTHMA IN CHILDREN WITH THE MEASUREMENT OF URINARY EOSINOPHIL PROTEIN-X IN CHILDREN, Allergologie, 19(7), 1996, pp. 316-319
PRIMARY-TREATMENT OF PROPIONIC ACIDEMIA COMPLICATED BY ACUTE THIAMINE-DEFICIENCY
Authors: MATERN D SEYDEWITZ HH LEHNERT W NIEDERHOFF H LEITITIS JU BRANDIS M
Citation: D. Matern et al., PRIMARY-TREATMENT OF PROPIONIC ACIDEMIA COMPLICATED BY ACUTE THIAMINE-DEFICIENCY, The Journal of pediatrics, 129(5), 1996, pp. 758-760
NOVEL MISSENSE MUTATION S108F IN EXON-4 OF THE CFTR GENE
Authors: SEYDEWITZ HH MULLER H WITT I
Citation: Hh. Seydewitz et al., NOVEL MISSENSE MUTATION S108F IN EXON-4 OF THE CFTR GENE, Human mutation, 6(3), 1995, pp. 278-278
A NOVEL HOMOZYGOUS MISSENSE MUTATION (VAL 325-]ALA) IN THE PROTEIN-C GENE CAUSING NEONATAL PURPURA FULMINANS
Authors: WITT I BECK S SEYDEWITZ HH TASANGIL C SCHENCK W
Citation: I. Witt et al., A NOVEL HOMOZYGOUS MISSENSE MUTATION (VAL 325-]ALA) IN THE PROTEIN-C GENE CAUSING NEONATAL PURPURA FULMINANS, Blood coagulation & fibrinolysis, 5(4), 1994, pp. 651-653
FREQUENCY OF THE MAIN MUTATION DELTA-F508 AND 4 OTHER MUTATIONS IN PATIENTS WITH CYSTIC-FIBROSIS IN SOUTH-WEST GERMANY (SUDBADEN)
Authors: SEYDEWITZ HH MULLER H HAUTZ J SCHUMACHER H WITT I
Citation: Hh. Seydewitz et al., FREQUENCY OF THE MAIN MUTATION DELTA-F508 AND 4 OTHER MUTATIONS IN PATIENTS WITH CYSTIC-FIBROSIS IN SOUTH-WEST GERMANY (SUDBADEN), Monatsschrift fur Kinderheilkunde, 142(2), 1994, pp. 106-109
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