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    1. Laccone, F; Huppke, P; Hanefeld, F; Meins, M
      Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions

      HUMAN MUTATION
    2. Caeic, M; Wilichowski, E; Mejaski-Bosnjak, V; Fumic, K; Lujic, L; Della Marina, BM; Hanefeld, F
      Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome

      JOURNAL OF CHILD NEUROLOGY
    3. Brockmann, K; Wang, D; Korenke, CG; von Moers, A; Ho, YY; Pascual, JM; Kuang, K; Yang, H; Ma, L; Kranz-Eble, P; Fischbarg, J; Hanefeld, F; De Vivo, DC
      Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy

      ANNALS OF NEUROLOGY
    4. Bruck, W; Herms, J; Brockmann, K; Schulz-Schaeffer, W; Hanefeld, F
      Myelinopathia centralis diffusa (vanishing white matter disease): Evidenceof apoptotic oligodendrocyte degeneration in early lesion development

      ANNALS OF NEUROLOGY
    5. Gieffers, J; Pohl, D; Treib, J; Dittmann, R; Stephan, C; Klotz, K; Hanefeld, F; Solbach, W; Haass, A; Maass, M
      Presence of Chlamydia pneumoniae DNA in the cerebral spinal fluid is a common phenomenon in a variety of neurological diseases and not restricted to multiple sclerosis

      ANNALS OF NEUROLOGY
    6. Pohl, D; Hanefeld, F
      Multiple sclerosis in children and adolescents

      AKTUELLE NEUROLOGIE
    7. Brockmann, K; Hanefeld, F
      Progressive elevation of liver enzymes in a child treated with sulthiame

      NEUROPEDIATRICS
    8. Aksu, F; Thyen, U; Hanefeld, F; Auerswald, G; Christen, HJ; Faust, J; Gabriel, R; Genzel, O; Haas, D; Hasselmann, O; Heinen, F; Karch, D; Kirschstein, M; Kluger, G; Korn-Merker, E; Krageloh-Mann, I; Marg, W; Mayatepek, E; Meissner, T; Niemann, G; Pust, B; Schmitt, B; Schoening, M; Schulze, A; Sperner, J; Tegtmeyer, FK; Weisert, M; Wiebicke, W; Wilken, B; Zschocke, J; Bentele, K; Schinzel, A; Strassburg, M
      On being a child and having children with the changing times

      MONATSSCHRIFT KINDERHEILKUNDE
    9. Trappe, R; Laccone, F; Cobilanschi, J; Meins, M; Huppke, P; Hanefeld, F; Engel, W
      MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Wilken, B; Ramirez, JM; Hanefeld, F; Richter, DW
      Aminophylline modulation of the mouse respiratory network changes during postnatal maturation

      JOURNAL OF APPLIED PHYSIOLOGY
    11. Huppke, P; Laccone, F; Kramer, N; Engel, W; Hanefeld, F
      Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

      HUMAN MOLECULAR GENETICS
    12. Huppke, P; Christen, HJ; Sattler, B; Hanefeld, F
      Two brothers with Hennekam syndrome and cerebral abnormalities

      CLINICAL DYSMORPHOLOGY
    13. Wilken, B; Dechent, P; Biol, D; Herms, J; Maxton, C; Markakis, E; Hanefeld, F; Frahm, J
      Quantitative proton magnetic resonance spectroscopy of focal brain lesions

      PEDIATRIC NEUROLOGY
    14. Pohl, D; Hanefeld, F
      Multiple sclerosis in childhood

      NERVENHEILKUNDE
    15. Hanefeld, F
      Award of the Peter Emil Pecker Prize 2000 to Prof. Bengt Hagberg, Gothenburg

      NEUROPEDIATRICS
    16. Hanefeld, F; Korner, C; Holzbach-Eberle, U; von Figura, K
      Congenital disorder of glycosylation-Ic: Case report and genetic defect

      NEUROPEDIATRICS
    17. Barmaki Pour, R; Stockler-Ipsiroglu, S; Hunneman, DH; Gahr, M; Korenke, GC; Pabst, W; Hanefeld, F; Peters, A
      Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22 : 1)-rich triglycerides

      JOURNAL OF INHERITED METABOLIC DISEASE
    18. Frewer, A; Hanefeld, F
      Not-so-simple minds

      SCIENCE
    19. Herms, J; Neidt, I; Luscher, B; Sommer, A; Schurmann, P; Schroder, T; Bergmann, M; Wilken, B; Probst-Cousin, S; Hernaiz-Driever, P; Behnke, J; Hanefeld, F; Pietsch, T; Kretzschmar, HA
      c-myc expression in medulloblastoma and its prognostic value

      INTERNATIONAL JOURNAL OF CANCER
    20. Christen, HJ; Hanefeld, F; Kruse, E; Imhauser, S; Ernst, JP; Finkenstaedt, M
      Foix-Chavany-Marie (anterior operculum) syndrome in childhood: a reappraisal of Worster-Drought syndrome

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    21. Schauder, S; Hanefeld, F; Noske, UM; Zoll, B
      Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

      BRITISH JOURNAL OF DERMATOLOGY
    22. Wilke, M; Eiffert, H; Christen, HJ; Hanefeld, F
      Primarily chronic and cerebrovascular course of Lyme neuroborreliosis: case reports and literature review

      ARCHIVES OF DISEASE IN CHILDHOOD
    23. Wilken, B; Ramirez, JM; Probst, I; Richter, DW; Hanefeld, F
      Anoxic ATP depletion in neonatal mice brainstem is prevented by creatine supplementation

      ARCHIVES OF DISEASE IN CHILDHOOD
    24. Dechent, P; Pouwels, PJW; Wilken, B; Hanefeld, F; Frahm, J
      Increase of total creatine in human brain after oral supplementation of creatine-monohydrate

      AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
    25. Saul, B; Kuner, T; Sobetzko, D; Brune, W; Hanefeld, F; Meinck, HM; Becker, CM
      Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines anintracellular determinant of glycine receptor channel gating

      JOURNAL OF NEUROSCIENCE
    26. Wilichowski, E; Pouwels, PJW; Frahm, J; Hanefeld, F
      Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS

      NEUROPEDIATRICS
    27. Borchert, A; Wilichowski, E; Hanefeld, F
      Supplementation with creatine monohydrate in children with mitochondrial encephalomyopathies

      MUSCLE & NERVE
    28. Pouwels, PJW; Brockmann, K; Kruse, B; Wilken, B; Wick, M; Hanefeld, F; Frahm, J
      Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS

      PEDIATRIC RESEARCH
    29. Pelin, K; Hilpela, P; Donner, K; Sewry, C; Akkari, PA; Wilton, SD; Wattanasirichaigoon, D; Bang, ML; Centner, T; Hanefeld, F; Odent, S; Fardeau, M; Urtizberea, JA; Muntoni, F; Dubowitz, V; Beggs, AH; Laing, NG; Labeit, S; de la Chapelle, A; Wallgren-Pettersson, C
      Mutations in the nebulin gene associated with autosomal recessive nemalinemyopathy

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    30. HANEFELD F
      MANAGEMENT OF MULTIPLE-SCLEROSIS IN CHILDREN

      European journal of neurology
    31. ROTH C; WILKEN B; HANEFELD F; SCHROTER W; LEONHARDT U
      HYPERPHAGIA IN CHILDREN WITH CRANIOPHARYNGIOMA IS ASSOCIATED WITH HYPERLEPTINAEMIA AND A FAILURE IN THE DOWN-REGULATION OF APPETITE

      European journal of endocrinology
    32. WILICHOWSKI E; OHLENBUSCH A; KORENKE GC; HUNNEMAN DH; HANEFELD F
      IDENTICAL MITOCHONDRIAL-DNA IN MONOZYGOTIC TWINS WITH DISCORDANT ADRENOLEUKODYSTROPHY PHENOTYPE

      Annals of neurology
    33. TVRDIK T; MARCUS S; HOU SM; FALT S; NOORI P; PODLUTSKAJA N; HANEFELD F; STROMME F; LAMBERT B
      MOLECULAR CHARACTERIZATION OF 2 DELETION EVENTS INVOLVING ALU-SEQUENCES, ONE NOVEL BASE SUBSTITUTION AND 2 TENTATIVE HOTSPOT MUTATIONS IN THE HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE (HPRT) GENE IN 5 PATIENTS WITH LESCH-NYHAN-SYNDROME

      Human genetics
    34. OHLENBUSCH A; WILICHOWSKI E; HANEFELD F
      CHARACTERIZATION OF THE MITOCHONDRIAL GENOME IN CHILDHOOD MULTIPLE-SCLEROSIS - I - OPTIC NEURITIS AND LHON MUTATIONS

      Neuropediatrics
    35. Wilichowski, E; Ohlenbusch, A; Hanefeld, F
      Characterization of the mitochondrial genome in childhood multiple sclerosis II. Multiple sclerosis without optic neuritis and LHON-associated genes

      NEUROPEDIATRICS
    36. Ohlenbusch, A; Wilichowski, E; Hanefeld, F
      Characterization of the mitochondrial genome in childhood multiple sclerosis III. Multiple sclerosis without optic neuritis and the non-LHON-associated genes

      NEUROPEDIATRICS
    37. WILKEN B; RAMIREZ JM; PROBST I; RICHTER DW; HANEFELD F
      CREATINE PROTECTS THE CENTRAL RESPIRATORY NETWORK OF MAMMALS UNDER ANOXIC CONDITIONS

      Pediatric research
    38. KORNER C; KNAUER R; HOLZBACH U; HANEFELD F; LEHLE L; VONFIGURA K
      CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-V - DEFICIENCY OF DOLICHYL-P-GLC-MAN(9)GLCNAC(2)-PP-DOLICHYL GLUCOSYLTRANSFERASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    39. GROSSSELBECK G; HANEFELD F; KARCH D; RITZ A; SCHLACK HG
      DOMAN-DELACATO APPROACH TO MOTOR AND DEVE LOPMENTAL DISORDERS - POSITION OF THE GESELLSCHAFT-FUR-NEUROPADIATRIE

      Monatsschrift fur Kinderheilkunde
    40. WILICHOWSKI E; KORENKE GC; RUITENBEEK W; DEMEIRLEIR L; HAGENDORFF A; JANSSEN AJM; LISSENS W; HANEFELD F
      PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/

      Journal of the neurological sciences
    41. WEBB T; CLARKE A; HANEFELD F; PEREIRA JL; ROSENBLOOM L; WOODS CG
      LINKAGE ANALYSIS IN RETT-SYNDROME FAMILIES SUGGESTS THAT THERE MAY BEA CRITICAL REGION AT XQ28

      Journal of Medical Genetics
    42. HERMS JW; BEHNKE J; BERGMANN M; CHRISTEN HJ; KOLB R; WILKENING M; MARKAKIS E; HANEFELD F; KRETZSCHMAR HA
      POTENTIAL PROGNOSTIC VALUE OF C-ERBB-2 EXPRESSION IN MEDULLOBLASTOMASIN VERY YOUNG-CHILDREN

      Journal of pediatric hematology/oncology
    43. SKJELDAL OH; CHRISTEN HJ; HAGNE I; HANEFELD F; HAGBERG B
      EARLY SEIZURE ONSET IN RETT-SYNDROME

      European child & adolescent psychiatry
    44. BROCKMANN K; HOLZBACH U; KRUSE B; CHRISTEN HJ; POUWELS P; FRAHM J; HANEFELD F
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY (MRS) OF THE BRAIN IN RETT-SYNDROME

      European child & adolescent psychiatry
    45. KORENKE GC; REIBER H; HUNNEMAN DH; HANEFELD F
      INTRATHECAL IGA SYNTHESIS IN X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

      Journal of child neurology
    46. KORENKE GC; ROTH C; KRASEMANN E; HUFNER M; HUNNEMAN DH; HANEFELD F
      VARIABILITY OF ENDOCRINOLOGIC DYSFUNCTION IN 55 PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY - CLINICAL, LABORATORY AND GENETIC FINDINGS

      European journal of endocrinology
    47. LUNDIN K; WILICHOWSKI E; ERNST BP; HANEFELD F
      S-1 NUCLEASE HYBRID ANALYSIS OF MITOCHONDRIAL-DNA AMPLIFIED BY LONG-DISTANCE PCR - RAPID SCREENING FOR SMALL-SCALE REARRANGEMENTS

      Nucleic acids research
    48. HUNNEMAN DH; HANEFELD F
      GC-MS DETERMINATION OF GUANIDINOACETATE IN URINE AND PLASMA

      Journal of inherited metabolic disease
    49. STOCKLER S; OPPER C; GREINACHER A; HUNNEMAN DH; KORENKE GC; UNKRIG CJ; HANEFELD F
      DECREASED PLATELET MEMBRANE ANISOTROPY IN PATIENTS WITH ADRENOLEUKODYSTROPHY TREATED WITH ERUCIC-ACID (22 1)-RICH TRIGLYCERIDES/

      Journal of inherited metabolic disease
    50. KORENKE GC; CHRISTEN HJ; KRUSE B; HUNNEMAN DH; HANEFELD F
      PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY UNDER INTERFERON-BETA THERAPY

      Journal of inherited metabolic disease
    51. STOCKLER S; HANEFELD F
      GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - A NEWLY RECOGNIZED INBORN ERROR OF CREATINE BIOSYNTHESIS

      Wiener Klinische Wochenschrift
    52. RICHTER DW; LALLEY PM; PIERREFICHE O; HAJI A; BISCHOFF AM; WILKEN B; HANEFELD F
      INTRACELLULAR SIGNAL PATHWAYS CONTROLLING RESPIRATORY NEURONS

      Respiration physiology
    53. WILICHOWSKI E; GRUTERS A; KRUSE K; RATING D; BEETZ R; KORENKE GC; ERNST BP; CHRISTEN HJ; HANEFELD F
      HYPOPARATHYROIDISM AND DEAFNESS ASSOCIATED WITH PLEIOPLASMIC LARGE-SCALE REARRANGEMENTS OF THE MITOCHONDRIAL-DNA - A CLINICAL AND MOLECULAR-GENETIC STUDY OF 4 CHILDREN WITH KEARNS-SAYRE-SYNDROME

      Pediatric research
    54. RATING D; BOENIGK HE; HANEFELD F
      LAUB,MICHAEL,C. - IN-MEMORIAM

      Monatsschrift fur Kinderheilkunde
    55. WILICHOWSKI E; KORENKE GC; CHRISTEN HJ; WAGNER M; RATING D; HANEFELD F
      DRUG AND DIETARY THERAPY IN MITOCHONDRIAL CYTOPATHIES OF CHILDHOOD

      Monatsschrift fur Kinderheilkunde
    56. STOCKLER S; MARESCAU B; DEDEYN PP; TRIJBELS JMF; HANEFELD F
      GUANIDINO COMPOUNDS IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY,A NEW INBORN ERROR OF CREATINE SYNTHESIS

      Metabolism, clinical and experimental
    57. WILKEN B; LALLEY P; BISCHOFF AM; CHRISTEN HJ; BEHNKE J; HANEFELD F; RICHTER DW
      TREATMENT OF APNEUSTIC RESPIRATORY DISTURBANCE WITH A SEROTONIN-RECEPTOR AGONIST

      The Journal of pediatrics
    58. KORENKE GC; POUWELS PJW; FRAHM J; HUNNEMAN DH; STOECKLER S; KRASEMANN E; JOST W; HANEFELD F
      ARRESTED CEREBRAL ADRENOLEUKODYSTROPHY - A CLINICAL AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY STUDY IN 3 PATIENTS

      Pediatric neurology
    59. KORENKE GC; FUCHS S; KRASEMANN E; DOERR HG; WILICHOWSKI E; HUNNEMAN DH; HANEFELD F
      CEREBRAL ADRENOLEUKODYSTROPHY (ALD) IN ONLY ONE OF MONOZYGOTIC TWINS WITH AN IDENTICAL ALD GENOTYPE

      Annals of neurology
    60. KRASEMANN EW; MEIER V; KORENKE GC; HUNNEMAN DH; HANEFELD F
      IDENTIFICATION OF MUTATIONS IN THE ALD-GENE OF 20 FAMILIES WITH ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY

      Human genetics
    61. KORENKE GC; CHRISTEN HJ; HUNNEMAN DH; HANEFELD F
      FAILURE OF BETA-INTERFERON THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY

      European journal of pediatrics
    62. EIFFERT H; HANEFELD F; THOMSSEN R; CHRISTEN HJ
      REINFECTION IN LYME BORRELIOSIS

      Infection
    63. WILKEN B; HELMS G; CHRISTEN HJ; BEHNKE J; FRAHM J; HANEFELD F
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF A CEREBELLAR TUMOR IN A 2-YEAR-OLD CHILD

      Child's nervous system
    64. BROCKMANN K; POUWELS PJW; CHRISTEN HJ; FRAHM J; HANEFELD F
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL METABOLIC DISTURBANCES IN CHILDREN WITH NEURONAL CEROID-LIPOFUSCINOSIS

      Neuropediatrics
    65. FRAHM J; HANEFELD F
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL METABOLITES

      Neuropediatrics
    66. STOCKLER S; HANEFELD F; FRAHM J
      CREATINE REPLACEMENT THERAPY IN GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, A NOVEL INBORN ERROR OF METABOLISM

      Lancet
    67. HUNNEMAN DH; WILICHOWSKI E; HANEFELD F
      BENIGN ADIPIC ACIDURIA

      Lancet
    68. WEVERS RA; STOCKLER S; ENGELKE U; HEERSCHAP A; SCHULZE A; RATING D; HANEFELD F
      H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN 2 PATIENTS WITH A CREATINE BIOSYNTHESIS DEFECT

      Journal of neurochemistry
    69. RUDNIKSCHONEBORN S; ZERRES K; HAHNEN E; MENG G; VOIT T; HANEFELD F; WIRTH B
      APPARENT AUTOSOMAL RECESSIVE INHERITANCE IN FAMILIES WITH PROXIMAL SPINAL MUSCULAR-ATROPHY AFFECTING INDIVIDUALS IN 2 GENERATIONS

      American journal of human genetics
    70. STOCKLER S; ISBRANDT D; HANEFELD F; SCHMIDT B; VONFIGURA K
      GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY - THE FIRST INBORN ERROR OF CREATINE METABOLISM IN MAN

      American journal of human genetics
    71. HOLZBACH U; HANEFELD F; HELMS G; HANICKE W; FRAHM J
      LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF CEREBRAL ABNORMALITIES IN CHILDREN WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Acta paediatrica
    72. BRUCK W; PORADA P; POSER S; RIECKMANN P; HANEFELD F; KRETZSCHMAR HA; LASSMANN H
      MONOCYTE-MACROPHAGE DIFFERENTIATION IN EARLY MULTIPLE-SCLEROSIS LESIONS

      Annals of neurology
    73. CHRISTEN HJ; EIFFERT H; OHLENBUSCH A; HANEFELD F
      EVALUATION OF THE POLYMERASE CHAIN-REACTION FOR THE DETECTION OF BORRELIA-BURGDORFERI IN CEREBROSPINAL-FLUID OF CHILDREN WITH ACUTE PERIPHERAL FACIAL PALSY

      European journal of pediatrics
    74. KORENKE GC; HUNNEMAN DH; KOHLER J; STOCKLER S; LANDMARK K; HANEFELD F
      GLYCEROLTRIOLEATE GLYCEROLTRIERUCATE THERAPY IN 16 PATIENTS WITH X-CHROMOSOMAL ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY - EFFECT ON CLINICAL, BIOCHEMICAL AND NEUROPHYSIOLOGICAL PARAMETERS

      European journal of pediatrics
    75. TREIBERHELD S; WILICHOWSKI E; ERNST BP; SEEMAN P; CHRISTEN HH; HANEFELD F
      FAMILIAL DYSTONIC DISTURBANCE OF MOVEMENT S IN LEIGHS SYNDROME

      Aktuelle Neurologie
    76. HANEFELD F; HAGBERG B; PERCY A
      MOLECULAR AND NEUROBIOLOGY ASPECTS OF RETT-SYNDROME

      Neuropediatrics
    77. CHRISTEN HJ; HANEFELD F
      MALE RETT VARIANT

      Neuropediatrics
    78. HANEFELD F; CHRISTEN HJ; HOLZBACH U; KRUSE B; FRAHM J; HANICKE W
      CEREBRAL PROTON MAGNETIC-RESONANCE SPECTROSCOPY IN RETT-SYNDROME

      Neuropediatrics
    79. BARTH PG; BLENNOW G; LENARD HG; BEGEER JH; VANDERKLEY JM; HANEFELD F; PETERS ACB; VALK J
      THE SYNDROME OF AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA, MICROCEPHALY, AND EXTRAPYRAMIDAL DYSKINESIA (PONTOCEREBELLAR HYPOPLASIA TYPE-2) - COMPILED DATA FROM 10 PEDIGREES

      Neurology
    80. CHRISTEN HJ; HANEFELD F
      LYME BORRELIOSIS IN CHILDHOOD

      HNO. Hals-, Nasen-, Ohrenarzte
    81. HANEFELD F; KRUSE B; HOLZBACH U; CHRISTEN HJ; MERBOLDT KD; HANICKE W; FRAHM J
      HEMIMEGALENCEPHALY - LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPYIN-VIVO

      Epilepsia
    82. SEO HC; KUNZE J; WILLEMS PJ; KIM AH; HANEFELD F; OBRIEN JS
      A SINGLE-BASE DELETION MUTATION IN A TURKISH PATIENT WITH FUCOSIDOSIS

      Human mutation
    83. MARTINSSON T; BJURSELL C; STIBLER H; KRISTIANSSON B; SKOVBY F; JAEKEN J; BLENNOW G; STROMME P; HANEFELD F; WAHLSTROM J
      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
    84. ERNST BP; WILICHOWSKI E; WAGNER M; HANEFELD F
      DELETION SCREENING OF MITOCHONDRIAL-DNA VIA MULTIPRIMER DNA AMPLIFICATION

      Molecular and cellular probes
    85. TREIBERHELD S; BUDJARJOWELIM H; RIEMANN D; RICHTER J; KRETZSCHMAR HA; HANEFELD F
      GIANT AXONAL NEUROPATHY - A GENERALIZED DISORDER OF INTERMEDIATE FILAMENTS WITH LONGITUDINAL GROOVES IN THE HAIR

      Neuropediatrics
    86. KNAUER R; LEHLE L; HANEFELD F; VONFIGURA K
      NORMAL N-OLIGOSACCHARYLTRANSFERASE ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME

      Journal of inherited metabolic disease
    87. STOCKLER S; HOLZBACH U; HANEFELD F; MARQUARDT I; HELMS G; REQUART M; HANICKE W; FRAHM J
      CREATINE DEFICIENCY IN THE BRAIN - A NEW, TREATABLE INBORN ERROR OF METABOLISM

      Pediatric research
    88. HANEFELD F; KRUSE B; BRUHN H; FRAHM J
      IN-VIVO PROTON MAGNETIC-RESONANCE SPECTROSCOPY OF THE BRAIN IN A PATIENT WITH L-2-HYDROXYGLUTARIC ACIDEMIA

      Pediatric research
    89. MOLLER P; CHRISTEN HJ; WILICHOWSKI E; HANEFELD F
      PROGRESSIVE NEURONAL DEGENERATION OF CHIL DHOOD WITH LIVER-DISEASE (MORBUS ALPERS)

      Monatsschrift fur Kinderheilkunde
    90. KONIG SA; SIEMES H; BLAKER F; BOENIGK E; GROSSSELBECK G; HANEFELD F; HAAS N; KOHLER B; KOELFEN W; KORINTHENBERG R; KUREK E; LENARD HG; PENIN H; PENZIEN JM; SCHUNKE W; SCHULTZE C; STEPHANI U; STUTE M; TRAUS M; WEINMANN HM; SCHEFFNER D
      SEVERE HEPATOTOXICITY DURING VALPROATE THERAPY - AN UPDATE AND REPORTOF 8 NEW FATALITIES

      Epilepsia
    91. KRUSE B; HANEFELD F; HOLZBACH U; WILICHOWSKI E; CHRISTEN HJ; MERBOLDT KD; HANICKE W; FRAHM J
      PROTON SPECTROSCOPY IN PATIENTS WITH LEIGHS DISEASE AND MITOCHONDRIALENZYME DEFICIENCY

      Developmental Medicine and Child Neurology
    92. FRANKE UC; SCAMBLER PJ; LOFFLER C; LONS P; HANEFELD F; ZOLL B; HANSMANN I
      INTERSTITIAL DELETION OF 22Q11 IN DIGEORGE-SYNDROME DETECTED BY HIGH-RESOLUTION AND MOLECULAR ANALYSIS

      Clinical genetics
    93. HANEFELD F
      PEDIATRIC AND DEVELOPMENTAL NEUROLOGY - EDITORIAL OVERVIEW

      Current opinion in neurology and neurosurgery
    94. HOFFMANN GF; SEPPEL CK; HOLMES B; MITCHELL L; CHRISTEN HJ; HANEFELD F; RATING D; NYHAN WL
      QUANTITATIVE ORGANIC-ACID ANALYSIS IN CEREBROSPINAL-FLUID AND PLASMA - REFERENCE VALUES IN A PEDIATRIC POPULATION

      Journal of chromatography. Biomedical applications
    95. KRUSE B; HANEFELD F; CHRISTEN HJ; BRUHN H; MICHAELIS T; HANICKE W; FRAHM J
      ALTERATIONS OF BRAIN-METABOLITES IN METACHROMATIC LEUKODYSTROPHY AS DETECTED BY LOCALIZED PROTON MAGNETIC-RESONANCE SPECTROSCOPY IN-VIVO

      Journal of neurology
    96. HANEFELD F; HOLZBACH U; KRUSE B; WILICHOWSKI E; CHRISTEN HJ; FRAHM J
      DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY

      Neuropediatrics
    97. BARTH PG; HOFFMANN GF; JAEKEN J; WANDERS RJA; DURAN M; JANSEN GA; JAKOBS C; LEHNERT W; HANEFELD F; VALK J; SCHUTGENS RBH; TREFZ FK; HARTUNG HP; CHAMOLES NA; SFAELLO Z; CARUSO U
      L-2-HYDROXYGLUTARIC ACIDEMIA - CLINICAL AND BIOCHEMICAL FINDINGS IN 12 PATIENTS AND PRELIMINARY-REPORT ON L-2-HYDROXYACID DEHYDROGENASE

      Journal of inherited metabolic disease
    98. STOCKLER S; MOLZER B; PLECKO B; ZENZ W; MUNTEAN W; SOLING U; HUNNEMAN DH; KORENKE C; HANEFELD F
      GIANT PLATELETS IN ERUCIC-ACID THERAPY FOR ADRENOLEUKODYSTROPHY

      Lancet
    99. CHRISTEN HJ; HANEFELD F
      LYME BORRELIOSIS IN CHILDHOOD

      Monatsschrift fur Kinderheilkunde


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 17:58:26