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Results: 1-18 |
Results: 18
DECREASED PLATELET MEMBRANE ANISOTROPY IN PATIENTS WITH ADRENOLEUKODYSTROPHY TREATED WITH ERUCIC-ACID (22 1)-RICH TRIGLYCERIDES/
Authors: STOCKLER S OPPER C GREINACHER A HUNNEMAN DH KORENKE GC UNKRIG CJ HANEFELD F
Citation: S. Stockler et al., DECREASED PLATELET MEMBRANE ANISOTROPY IN PATIENTS WITH ADRENOLEUKODYSTROPHY TREATED WITH ERUCIC-ACID (22 1)-RICH TRIGLYCERIDES/, Journal of inherited metabolic disease, 20(1), 1997, pp. 54-58
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - A NEWLY RECOGNIZED INBORN ERROR OF CREATINE BIOSYNTHESIS
Authors: STOCKLER S HANEFELD F
Citation: S. Stockler et F. Hanefeld, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - A NEWLY RECOGNIZED INBORN ERROR OF CREATINE BIOSYNTHESIS, Wiener Klinische Wochenschrift, 109(3), 1997, pp. 86-88
GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS
Authors: STOCKLER S MARESCAU B DEDEYN PP TRIJBELS JMF HANEFELD F
Citation: S. Stockler et al., GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS, Metabolism, clinical and experimental, 46(10), 1997, pp. 1189-1193
CREATINE REPLACEMENT THERAPY IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, A NOVEL INBORN ERROR OF METABOLISM
Authors: STOCKLER S HANEFELD F FRAHM J
Citation: S. Stockler et al., CREATINE REPLACEMENT THERAPY IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, A NOVEL INBORN ERROR OF METABOLISM, Lancet, 348(9030), 1996, pp. 789-790
H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN 2 PATIENTS WITH A CREATINE BIOSYNTHESIS DEFECT
Authors: WEVERS RA STOCKLER S ENGELKE U HEERSCHAP A SCHULZE A RATING D HANEFELD F
Citation: Ra. Wevers et al., H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN 2 PATIENTS WITH A CREATINE BIOSYNTHESIS DEFECT, Journal of neurochemistry, 66, 1996, pp. 25-25
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - THE FIRST INBORN ERROR OF CREATINE METABOLISM IN MAN
Authors: STOCKLER S ISBRANDT D HANEFELD F SCHMIDT B VONFIGURA K
Citation: S. Stockler et al., GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - THE FIRST INBORN ERROR OF CREATINE METABOLISM IN MAN, American journal of human genetics, 58(5), 1996, pp. 914-922
GLYCEROLTRIOLEATE GLYCEROLTRIERUCATE THERAPY IN 16 PATIENTS WITH X-CHROMOSOMAL ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY - EFFECT ON CLINICAL, BIOCHEMICAL AND NEUROPHYSIOLOGICAL PARAMETERS
Authors: KORENKE GC HUNNEMAN DH KOHLER J STOCKLER S LANDMARK K HANEFELD F
Citation: Gc. Korenke et al., GLYCEROLTRIOLEATE GLYCEROLTRIERUCATE THERAPY IN 16 PATIENTS WITH X-CHROMOSOMAL ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY - EFFECT ON CLINICAL, BIOCHEMICAL AND NEUROPHYSIOLOGICAL PARAMETERS, European journal of pediatrics, 154(1), 1995, pp. 64-70
SEVERELY DEPRESSED NATURAL-KILLER-CELL ACTIVITY OF PATIENTS WITH ADRENOLEUKODYSTROPHY UNDER TREATMENT WITH LORENZOS OIL
Authors: SEDLMAYR P PLECKO B PASCHKE E ZENZ W RAMSCHAK H TOPLAK H WASCHER TC WILDERSTRUSCHNIG M STOCKLER S
Citation: P. Sedlmayr et al., SEVERELY DEPRESSED NATURAL-KILLER-CELL ACTIVITY OF PATIENTS WITH ADRENOLEUKODYSTROPHY UNDER TREATMENT WITH LORENZOS OIL, Journal of inherited metabolic disease, 18(1), 1995, pp. 101-102
MUTATIONS IN THE GENE FOR X-LINKED ADRENOLEUKODYSTROPHY IN PATIENTS WITH DIFFERENT CLINICAL PHENOTYPES
Authors: BRAUN A AMBACH H KAMMERER S ROLINSKI B STOCKLER S RABL W GARTNER J ZIERZ S ROSCHER AA
Citation: A. Braun et al., MUTATIONS IN THE GENE FOR X-LINKED ADRENOLEUKODYSTROPHY IN PATIENTS WITH DIFFERENT CLINICAL PHENOTYPES, American journal of human genetics, 56(4), 1995, pp. 854-861
REDUCED STIMULABILITY OF PLATELET SURFACE-ADHESION MOLECULES UNDER TREATMENT WITH LORENZOS OIL
Authors: TOPLAK H WASCHER TC PLESCHKO B RAMSCHAK H SEDLMAYR P WILDERSTRUSCHNIGG M STOCKLER S
Citation: H. Toplak et al., REDUCED STIMULABILITY OF PLATELET SURFACE-ADHESION MOLECULES UNDER TREATMENT WITH LORENZOS OIL, Journal of inherited metabolic disease, 17(5), 1994, pp. 628-629
CREATINE DEFICIENCY IN THE BRAIN - A NEW, TREATABLE INBORN ERROR OF METABOLISM
Authors: STOCKLER S HOLZBACH U HANEFELD F MARQUARDT I HELMS G REQUART M HANICKE W FRAHM J
Citation: S. Stockler et al., CREATINE DEFICIENCY IN THE BRAIN - A NEW, TREATABLE INBORN ERROR OF METABOLISM, Pediatric research, 36(3), 1994, pp. 409-413
SYMMETRICAL HYPOPLASIA OF THE TEMPORAL CEREBRAL LOBES IN AN INFANT WITH GLUTARIC ACIDURIA TYPE-II (MULTIPLE ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY)
Authors: STOCKLER S RADNER H KARPF EF HAUER A EBNER F
Citation: S. Stockler et al., SYMMETRICAL HYPOPLASIA OF THE TEMPORAL CEREBRAL LOBES IN AN INFANT WITH GLUTARIC ACIDURIA TYPE-II (MULTIPLE ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY), The Journal of pediatrics, 124(4), 1994, pp. 601-604
LIPOSOMAL AMPHOTERICIN-B (AMBISOME) FOR TREATMENT OF CUTANEOUS WIDESPREAD CANDIDOSIS IN AN INFANT WITH METHYLMALONIC ACIDEMIA
Authors: STOCKLER S LACKNER H GINTER G SCHWINGER W PLECKO B MULLER W
Citation: S. Stockler et al., LIPOSOMAL AMPHOTERICIN-B (AMBISOME) FOR TREATMENT OF CUTANEOUS WIDESPREAD CANDIDOSIS IN AN INFANT WITH METHYLMALONIC ACIDEMIA, European journal of pediatrics, 152(12), 1993, pp. 981-983
MUCOPOLYSACCHARIDOSIS-I AND INTRACRANIAL TUMOR IN A PATIENT WITH HIGH-PRESSURE HYDROCEPHALUS
Authors: STOCKLER S KLEINERT R EBNER F PASCHKE E
Citation: S. Stockler et al., MUCOPOLYSACCHARIDOSIS-I AND INTRACRANIAL TUMOR IN A PATIENT WITH HIGH-PRESSURE HYDROCEPHALUS, Pediatric radiology, 23(5), 1993, pp. 353-354
PHYSIOLOGY AND PATHOPHYSIOLOGY OF ORGANIC-ACIDS IN CEREBROSPINAL-FLUID
Authors: HOFFMANN GF MEIERAUGENSTEIN W STOCKLER S SURTEES R RATING D NYHAN WL
Citation: Gf. Hoffmann et al., PHYSIOLOGY AND PATHOPHYSIOLOGY OF ORGANIC-ACIDS IN CEREBROSPINAL-FLUID, Journal of inherited metabolic disease, 16(4), 1993, pp. 648-669
GIANT PLATELETS IN ERUCIC-ACID THERAPY FOR ADRENOLEUKODYSTROPHY
Authors: STOCKLER S MOLZER B PLECKO B ZENZ W MUNTEAN W SOLING U HUNNEMAN DH KORENKE C HANEFELD F
Citation: S. Stockler et al., GIANT PLATELETS IN ERUCIC-ACID THERAPY FOR ADRENOLEUKODYSTROPHY, Lancet, 341(8857), 1993, pp. 1414-1415
ZELLWEGERS SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY OR INFANTILE REFSUMS DISEASE IN A CASE OF PEROXISOMAL DEFICIENCY DISORDER
Authors: SCHMITT K MOLZER B STOCKLER S TULZER G TULZER W
Citation: K. Schmitt et al., ZELLWEGERS SYNDROME, NEONATAL ADRENOLEUKODYSTROPHY OR INFANTILE REFSUMS DISEASE IN A CASE OF PEROXISOMAL DEFICIENCY DISORDER, Wiener Klinische Wochenschrift, 105(11), 1993, pp. 320-322
MULTIPLE SCLEROSIS-LIKE SYNDROME IN A WOMAN HETEROZYGOUS FOR ADRENOLEUKODYSTROPHY
Authors: STOCKLER S MILLNER M MOLZER B EBNER F KORNER E MOSER HW
Citation: S. Stockler et al., MULTIPLE SCLEROSIS-LIKE SYNDROME IN A WOMAN HETEROZYGOUS FOR ADRENOLEUKODYSTROPHY, European neurology, 33(5), 1993, pp. 390-392
Risultati: 1-18 |