AAAAAA

   
Results: 1-18 |
Results: 18
FIRST MISSENSE MUTATION (W679R) IN EXON-10 OF THE ADRENOLEUKODYSTROPHY GENE IN SIBLINGS WITH ADRENOMYELONEUROPATHY
Authors: KORENKE GC KRASEMANN E MEIER V BEUCHE W HUNNEMAN DH HANEFELD E
Citation: Gc. Korenke et al., FIRST MISSENSE MUTATION (W679R) IN EXON-10 OF THE ADRENOLEUKODYSTROPHY GENE IN SIBLINGS WITH ADRENOMYELONEUROPATHY, Human mutation, 1998, pp. 204-206
IDENTICAL MITOCHONDRIAL-DNA IN MONOZYGOTIC TWINS WITH DISCORDANT ADRENOLEUKODYSTROPHY PHENOTYPE
Authors: WILICHOWSKI E OHLENBUSCH A KORENKE GC HUNNEMAN DH HANEFELD F
Citation: E. Wilichowski et al., IDENTICAL MITOCHONDRIAL-DNA IN MONOZYGOTIC TWINS WITH DISCORDANT ADRENOLEUKODYSTROPHY PHENOTYPE, Annals of neurology, 43(6), 1998, pp. 835-836
INTRATHECAL IGA SYNTHESIS IN X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY
Authors: KORENKE GC REIBER H HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., INTRATHECAL IGA SYNTHESIS IN X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY, Journal of child neurology, 12(5), 1997, pp. 314-320
VARIABILITY OF ENDOCRINOLOGIC DYSFUNCTION IN 55 PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY - CLINICAL, LABORATORY AND GENETIC FINDINGS
Authors: KORENKE GC ROTH C KRASEMANN E HUFNER M HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., VARIABILITY OF ENDOCRINOLOGIC DYSFUNCTION IN 55 PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY - CLINICAL, LABORATORY AND GENETIC FINDINGS, European journal of endocrinology, 137(1), 1997, pp. 40-47
LEUKODYSTROPHY INCIDENCE IN GERMANY
Authors: HEIM P CLAUSSEN M HOFFMANN B CONZELMANN E GARTNER J HARZER K HUNNEMAN DH KOHLER W KURLEMANN G KOHLSCHUTTER A
Citation: P. Heim et al., LEUKODYSTROPHY INCIDENCE IN GERMANY, American journal of medical genetics, 71(4), 1997, pp. 475-478
GC-MS DETERMINATION OF GUANIDINOACETATE IN URINE AND PLASMA
Authors: HUNNEMAN DH HANEFELD F
Citation: Dh. Hunneman et F. Hanefeld, GC-MS DETERMINATION OF GUANIDINOACETATE IN URINE AND PLASMA, Journal of inherited metabolic disease, 20(3), 1997, pp. 450-452
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
PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY UNDER INTERFERON-BETA THERAPY
Authors: KORENKE GC CHRISTEN HJ KRUSE B HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY UNDER INTERFERON-BETA THERAPY, Journal of inherited metabolic disease, 20(1), 1997, pp. 59-66
ARRESTED CEREBRAL ADRENOLEUKODYSTROPHY - A CLINICAL AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY STUDY IN 3 PATIENTS
Authors: KORENKE GC POUWELS PJW FRAHM J HUNNEMAN DH STOECKLER S KRASEMANN E JOST W HANEFELD F
Citation: Gc. Korenke et al., ARRESTED CEREBRAL ADRENOLEUKODYSTROPHY - A CLINICAL AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY STUDY IN 3 PATIENTS, Pediatric neurology, 15(2), 1996, pp. 103-107
CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE
Authors: KORENKE GC FUCHS S KRASEMANN E DOERR HG WILICHOWSKI E HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE, Annals of neurology, 40(2), 1996, pp. 254-257
IDENTIFICATION OF MUTATIONS IN THE ALD-GENE OF 20 FAMILIES WITH ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY
Authors: KRASEMANN EW MEIER V KORENKE GC HUNNEMAN DH HANEFELD F
Citation: Ew. Krasemann et al., IDENTIFICATION OF MUTATIONS IN THE ALD-GENE OF 20 FAMILIES WITH ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY, Human genetics, 97(2), 1996, pp. 194-197
FAILURE OF BETA-INTERFERON THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY
Authors: KORENKE GC CHRISTEN HJ HUNNEMAN DH HANEFELD F
Citation: Gc. Korenke et al., FAILURE OF BETA-INTERFERON THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY, European journal of pediatrics, 155(9), 1996, pp. 833-833
BENIGN ADIPIC ACIDURIA
Authors: HUNNEMAN DH WILICHOWSKI E HANEFELD F
Citation: Dh. Hunneman et al., BENIGN ADIPIC ACIDURIA, Lancet, 347(9017), 1996, pp. 1772-1773
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
ADRENOMYELONEUROPATHY, A COMMON-CAUSE OF ADDISONS-DISEASE
Authors: SCHAFER JR EHLENZ K STEINMETZ A PILZ C HUNNEMAN DH BAERWALD C VONWICHERT P KAFFARNIK H
Citation: Jr. Schafer et al., ADRENOMYELONEUROPATHY, A COMMON-CAUSE OF ADDISONS-DISEASE, Deutsche Medizinische Wochenschrift, 119(10), 1994, pp. 327-331
INVESTIGATION OF CARDIAC METABOLISM USING STABLE ISOTOPES AND MASS-SPECTROMETRY
Authors: MULLER FU HUNNEMAN DH KAHLES R HELLIGE G
Citation: Fu. Muller et al., INVESTIGATION OF CARDIAC METABOLISM USING STABLE ISOTOPES AND MASS-SPECTROMETRY, Basic research in cardiology, 88(3), 1993, pp. 272-281
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
SERIAL MEASUREMENTS OF NEUROPEPTIDE Y-IN PLASMA FOR MONITORING NEUROBLASTOMA IN CHILDREN
Authors: RASCHER W KREMENS B WAGNER S FETH F HUNNEMAN DH LANG RE
Citation: W. Rascher et al., SERIAL MEASUREMENTS OF NEUROPEPTIDE Y-IN PLASMA FOR MONITORING NEUROBLASTOMA IN CHILDREN, The Journal of pediatrics, 122(6), 1993, pp. 914-916
Risultati: 1-18 |