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La ricerca find articoli where soggetti phrase all words 'SJOGREN-LARSSON-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 51 riferimenti
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    1. Berger, J; Moser, HW; Forss-Petter, S
      Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment

      CURRENT OPINION IN NEUROLOGY
    2. Wang, Z; Moult, J
      SNPs, protein structure, and disease

      HUMAN MUTATION
    3. Kaye, EM
      Update on genetic disorders affecting white matter

      PEDIATRIC NEUROLOGY
    4. Kaminaga, T; Mano, T; Ono, J; Kusuoka, H; Nakamura, H; Nishimura, T
      Proton magnetic resonance spectroscopy of Sjogren-Larsson syndrome heterozygotes

      MAGNETIC RESONANCE IN MEDICINE
    5. Willemsen, MAAP; Lutt, MAJ; Steijlen, PM; Cruysberg, JRM; van der Graaf, M; Nijhuis-van der Sanden, MWG; Pasman, JW; Mayatepek, E; Rotteveel, JJ
      Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome

      EUROPEAN JOURNAL OF PEDIATRICS
    6. Sakamoto, M; Sasano, T; Higano, S; Takahashi, S; Nagasaka, T; Yanagawa, I; Hosogai, Y; Tamura, H; Iikubo, M; Shoji, N
      Evaluation of pulse sequences used for magnetic resonance sialography

      DENTOMAXILLOFACIAL RADIOLOGY
    7. Willemsen, MAAP; Rotteveel, JJ; de Jong, JGN; Wanders, RJA; IJlst, L; Hoffmann, GF; Mayatepek, E
      Defective metabolism of Leukotriene B-4 in the Sjogren-Larsson Syndrome

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    8. Williard, DE; Nwankwo, JO; Kaduce, TL; Harmon, SD; Irons, M; Moser, HW; Raymond, GV; Spector, AA
      Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts

      JOURNAL OF LIPID RESEARCH
    9. Rizzo, WB; Lin, Z; Carney, G
      Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjogren-Larsson syndrome

      CHEMICO-BIOLOGICAL INTERACTIONS
    10. Willemsen, MAAP; Ijlst, L; Steijlen, PM; Rotteveel, JJ; de Jong, JGN; van Domburg, PHMF; Mayatepek, E; Gabreels, FJM; Wanders, RJA
      Clinical, biochemical and molecular genetic characteristics of 19 patientswith the Sjogren-Larsson syndrome

      BRAIN
    11. Lin, ZL; Carney, G; Rizzo, WB
      Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene

      MOLECULAR GENETICS AND METABOLISM
    12. Williams, ML; Elias, PM
      Ichthyosis: Where we have been disorders of cornification: Where we are going

      CURRENT PROBLEMS IN DERMATOLOGY-US
    13. Kraus, C; Braun-Quentin, C; Ballhausen, WG; Pfeiffer, RA
      RNA-based mutation screening in German families with Sjogren-Larsson syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    14. Ruggieri, M; Pavone, L
      Hypomelanosis of ito: Clinical syndrome or just phenotype?

      JOURNAL OF CHILD NEUROLOGY
    15. Mayatepek, E
      Leukotriene C-4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases

      EUROPEAN JOURNAL OF PEDIATRICS
    16. Willemsen, MAAP; Rotteveel, JJ; Steijlen, PM; Heerschap, A; Mayatepek, E
      5-lipoxygenase inhibition: A new treatment strategy for Sjogren-Larsson syndrome

      NEUROPEDIATRICS
    17. Satomichi, A; Nakajima, Y; Takeuchi, A; Takagaki, Y; Saigenji, K; Shibuya, A
      Primary structure of human hepatocellular carcinoma-associated aldehyde dehydrogenase

      BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
    18. Willemsen, MAAP; Rotteveel, JJ; Steijlen, PM; Wanders, RJA
      Incomplete Sjogren-Larsson syndrome in two Japanese siblings?

      DERMATOLOGY
    19. Taube, B; Billeaud, C; Labreze, C; Entressangles, B; Fontan, D; Taieb, A
      Sjogren-Larsson syndrome: Early diagnosis, dietary management and biochemical studies in two cases

      DERMATOLOGY
    20. Kawakami, T; Saito, R; Fujikawa, Y; Kazama, H; Shinomiya, N; Yamaguchi, K; Yamaguchi, Y; Aoki, T; Kobayashi, T
      Incomplete Sjogren-Larsson syndrome in two Japanese siblings

      DERMATOLOGY
    21. Vasiliou, V; Bairoch, A; Tipton, KF; Nebert, DW
      Eukaryotic aldehyde dehydrogenase (ALDH) genes: human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping

      PHARMACOGENETICS
    22. Haddad, FS; Lacour, M; Harper, JI; Fixsen, JA
      The orthopaedic presentation and management of Sjogren-Larsson syndrome

      JOURNAL OF PEDIATRIC ORTHOPAEDICS
    23. Willemsen, MAAP; Rotteveel, JJ; van Domburg, PHMF; Gabreels, FJM; Mayatepek, E; Sengers, RCA
      Preterm birth in Sjogren-Larsson syndrome

      NEUROPEDIATRICS
    24. Hadj-Rabia, S; Bodemer, C; De Prost, Y; Lyonnet, S
      Prenatal diagnosis in dermatology

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    25. RIZZO WB
      INHERITED DISORDERS OF FATTY ALCOHOL METABOLISM

      Molecular genetics and metabolism ( Molecular genetics and metabolism (Print))
    26. YAMAGUCHI K
      SJOGREN-LARSSON-SYNDROME - SPORADIC CASE OF THE DISEASE IN A BOY 8 YEARS OF AGE

      Clinical neuropathology
    27. VERHOEVEN NM; JAKOBS C; CARNEY G; SOMERS MP; WANDERS RJA; RIZZO WB
      INVOLVEMENT OF MICROSOMAL FATTY ALDEHYDE DEHYDROGENASE IN THE ALPHA-OXIDATION OF PHYTANIC ACID

      FEBS letters
    28. AKIYAMA M
      SEVERE CONGENITAL ICHTHYOSIS OF THE NEONATE

      International journal of dermatology
    29. JOSHI AR; MULLEN L; SMALL KW
      THE RETINA - GENETIC-STUDIES OF SEVERAL RETINOPATHIES LOCATED ON THE SHORT ARM OF CHROMOSOME-17

      Current opinion in neurology
    30. RIZZO WB; CARNEY G; DELAURENZI V
      A COMMON DELETION MUTATION IN EUROPEAN PATIENTS WITH SJOGREN-LARSSON-SYNDROME

      Biochemical and molecular medicine
    31. CHANG C; YOSHIDA A
      HUMAN FATTY ALDEHYDE DEHYDROGENASE GENE (ALDH10) - ORGANIZATION AND TISSUE-DEPENDENT EXPRESSION

      Genomics
    32. ROGERS GR; MARKOVA NG; DELAURENZI V; RIZZO WB; COMPTON JG
      GENOMIC ORGANIZATION AND EXPRESSION OF THE HUMAN FATTY ALDEHYDE DEHYDROGENASE GENE (FALDH)

      Genomics
    33. KELSON TL; MCVOY JRS; RIZZO WB
      HUMAN LIVER FATTY ALDEHYDE DEHYDROGENASE - MICROSOMAL LOCALIZATION, PURIFICATION, AND BIOCHEMICAL-CHARACTERIZATION

      Biochimica et biophysica acta (G). General subjects
    34. STEINER G; ARFFA RC
      PSORIASIS, ICHTHYOSIS, AND PORPHYRIA

      International ophthalmology clinics
    35. SCHEIMBERG I; HARPER JI; MALONE M; LAKE BD
      INHERITED ICHTHYOSES - A REVIEW OF THE HISTOLOGY OF THE SKIN

      PEDIATRIC PATHOLOGY & LABORATORY MEDICINE
    36. LACOUR M
      UPDATE ON SJOGREN-LARSSON SYNDROME

      Dermatology
    37. LACOUR M; MIDDLETONPRICE HR; HARPER JI
      CONFIRMATION OF LINKAGE OF SJOGREN-LARSSON SYNDROME TO CHROMOSOME-17 IN FAMILIES OF DIFFERENT ETHNIC-ORIGINS

      Journal of Medical Genetics
    38. KUMAR S; SEHGAL VN; SHARMA RC
      COMMON GENODERMATOSES

      International journal of dermatology
    39. LUCKER GPH; VANDEKERKHOF PCM; CRUYSBERG JRM; DERKINDEREN DJ; STEIJLEN PM
      TOPICAL TREATMENT OF SJOGREN-LARSSON SYNDROME WITH CALCIPOTRIOL

      Dermatology
    40. AMANO R; OHTSUKA Y; OHTAHARA S
      MONOZYGOTIC TWIN PATIENTS WITH CONGENITAL ICHTHYOSIS, MICROCEPHALUS, SPASTIC QUADRIPLEGIA, MYOCLONUS, AND EEG ABNORMALITIES

      Pediatric neurology
    41. JOSHI RK; SINGH B; ALSHAHWAN SA; ABANMI A
      THE SJOGREN-LARSSON SYNDROME - AN INBORN ERROR IN THE FATTY ALCOHOL CYCLE

      Saudi medical journal
    42. HUSSAIN MZ; AIHARA M; OBA H; OHTOMO K; UCHIYAMA G; HAYASHIBE H; NAKAZAWA S
      MRI OF WHITE-MATTER CHANGES IN THE SJOGREN-LARSSON SYNDROME

      Neuroradiology
    43. MIYANOMAE Y; OCHI M; YOSHIOKA H; TAKAYA K; KIZAKI Z; INOUE F; FURUYA S; NARUSE S
      CEREBRAL MRI AND SPECTROSCOPY IN SJOGREN-LARSSON SYNDROME - CASE-REPORT

      Neuroradiology
    44. SHASHI V; ZUNICH J; KELLY TE; FRYBURG JS
      NEUROECTODERMAL (CHIME) SYNDROME - AN ADDITIONAL CASE WITH LONG-TERM FOLLOW-UP OF ALL REPORTED CASES

      Journal of Medical Genetics
    45. SAKURABA H; NOGUCHI T
      ALCOHOL-NAD(-LIVER PEROXISOMES() OXIDOREDUCTASE IS PRESENT IN RAT)

      The Journal of biological chemistry
    46. PAIGE DG; MORSEFISHER N; HARPER JI
      QUANTIFICATION OF STRATUM-CORNEUM CERAMIDES AND LIPID ENVELOPE CERAMIDES IN THE HEREDITARY ICHTHYOSES

      British journal of dermatology
    47. NIEMI KM; KANERVA L; KUOKKANEN K; IGNATIUS J
      CLINICAL, LIGHT AND ELECTRON-MICROSCOPIC FEATURES OF RECESSIVE CONGENITAL ICHTHYOSIS TYPE-I

      British journal of dermatology
    48. DASGUPTA A; THOMPSON WC; MALIK S
      USE OF MICROWAVE IRRADIATION FOR RAPID SYNTHESIS OF PERFLUOROOCTANOYLDERIVATIVES OF FATTY ALCOHOLS, A NEW DERIVATIVE FOR GAS-CHROMATOGRAPHY MASS-SPECTROMETRIC AND FAST-ATOM-BOMBARDMENT MASS-SPECTROMETRIC STUDY

      Journal of chromatography
    49. RIZZO WB; CRAFT DA; JUDD LL; MOSER HW; MOSER AB
      FATTY ALCOHOL ACCUMULATION IN THE AUTOSOMAL RECESSIVE FORM OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

      Biochemical medicine and metabolic biology
    50. CADRIN C; GOLBUS MS
      FETAL TISSUE SAMPLING - INDICATIONS, TECHNIQUES, COMPLICATIONS, AND EXPERIENCE WITH SAMPLING OF FETAL SKIN, LIVER, AND MUSCLE

      Western journal of medicine
    51. HOLBROOK KA; SMITH LT; ELIAS S
      PRENATAL-DIAGNOSIS OF GENETIC SKIN-DISEASE USING FETAL SKIN BIOPSY SAMPLES

      Archives of dermatology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/10/20 alle ore 01:52:14