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La ricerca find articoli where soggetti phrase all words 'LIPOPROTEIN-LIPASE DEFICIENCY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 35 riferimenti
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    1. Ullrich, NFE; Purnell, JQ; Brunzell, JD
      Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency

      JOURNAL OF INVESTIGATIVE MEDICINE
    2. Ando, H; Nishimura, Y; Nemoto, T; Takamura, T; Nagai, Y; Kobayashi, K
      Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPLArita) and apolipoprotein epsilon(4): A report of a familywith LPLArita

      ENDOCRINE JOURNAL
    3. Martinez, J; Dugaiczyk, LJ; Zielinski, R; Dugaiczyk, A
      Human genetic disorders, a phylogenetic perspective

      JOURNAL OF MOLECULAR BIOLOGY
    4. Gilbert, B; Rouis, M; Griglio, S; de Lumley, L; Laplaud, PM
      Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6

      ANNALES DE GENETIQUE
    5. Takagi, A; Ikeda, Y; Takeda, E; Yamamoto, A
      A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    6. Chan, L; Mak, Y; Tomlinson, B; Baum, L; Wu, X; Masarei, J; Pang, C
      Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a Chinese patient with hypertriglyceridemia

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    7. Bertolini, S; Simone, ML; Pes, GM; Ghisellini, M; Rolleri, M; Bellocchio, A; Elicio, N; Masturzo, P; Calandra, S
      Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr(302) > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)

      CLINICAL GENETICS
    8. Okubo, M; Inoue, S; Horinishi, A; Ogihara, T; Kaneko, K; Gotoda, T; Yamada, N; Murase, T
      Detection of a new compound heterozygote (del G(916)/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients

      ATHEROSCLEROSIS
    9. Takagi, A; Ikeda, Y; Tachi, K; Shinozuka, T; Yamamoto, A
      Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese

      CLINICA CHIMICA ACTA
    10. von Kodolitsch, Y; Pyeritz, RE; Rogan, PK
      Splice-site mutations in atherosclerosis candidate genes - Relating individual information to phenotype

      CIRCULATION
    11. ROGAN PK; FAUX BM; SCHNEIDER TD
      INFORMATION ANALYSIS OF HUMAN SPLICE-SITE MUTATIONS

      Human mutation
    12. SUGA S; TAMASAWA N; KINPARA I; MURAKAMI H; KASAI N; ONUMA T; IKEDA Y; TAKAGI A; SUDA T
      IDENTIFICATION OF HOMOZYGOUS LIPOPROTEIN-LIPASE GENE MUTATION IN A WOMAN WITH RECURRENT AGGRAVATION OF HYPERTRIGLYCERIDEMIA INDUCED BY PREGNANCY

      Journal of internal medicine
    13. HOLZL B; PAULWEBER B; SANDHOFER F; PATSCH JR
      HYPERTRIGLYCERIDEMIA AND INSULIN-RESISTANCE

      Journal of internal medicine
    14. PATSCH J
      INFLUENCE OF LIPOLYSIS ON CHYLOMICRON CLEARANCE AND HDL CHOLESTEROL LEVELS

      European heart journal
    15. GOTODA T; KINOSHITA M; ISHIBASHI S; INABA T; HARADA K; SHIMADA M; OSUGA J; TERAMOTO T; YAZAKI Y; TAMADA N
      SKIPPING OF EXON-14 AND POSSIBLE INSTABILITY OF BOTH THE MESSENGER-RNA AND THE RESULTANT TRUNCATED PROTEIN UNDERLIE A COMMON CHOLESTERYL ESTER TRANSFER PROTEIN-DEFICIENCY IN JAPAN

      Arteriosclerosis, thrombosis, and vascular biology
    16. ROUIS M; DUGI KA; PREVIATO L; PATTERSON AP; BRUNZELL JD; BREWER HB; SANTAMARINAFOJO S
      THERAPEUTIC RESPONSE TO MEDIUM-CHAIN TRIGLYCERIDES AND OMEGA-3-FATTY-ACIDS IN A PATIENT WITH THE FAMILIAL CHYLOMICRONEMIA SYNDROME

      Arteriosclerosis, thrombosis, and vascular biology
    17. MAILLY F; PALMEN J; MULLER DPR; GIBBS T; LLOYD J; BRUNZELL J; DURRINGTON P; MITROPOULOS K; BETTERIDGE J; WATTS G; LITHELL H; ANGELICO F; HUMPHRIES SE; TALMUD PJ
      FAMILIAL LIPOPROTEIN-LIPASE (LPL) DEFICIENCY - A CATALOG OF LPL GENE-MUTATIONS IDENTIFIED IN 20 PATIENTS FROM THE UK, SWEDEN, AND ITALY

      Human mutation
    18. BUCHER H; RAMPINI S; JAMES RW; POMETTA D; FUNKE H; WIEBUSCH H; ASSMANN G
      MARKED CHANGES OF LIPID-LEVELS DURING PUBERTY IN A PATIENT WITH LIPOPROTEIN-LIPASE DEFICIENCY

      European journal of pediatrics
    19. STAELS B; SCHOONJANS K; FRUCHART JC; AUWERX J
      THE EFFECTS OF FIBRATES AND THIAZOLIDINEDIONES ON PLASMA TRIGLYCERIDE-METABOLISM ARE MEDIATED BY DISTINCT PEROXISOME PROLIFERATOR ACTIVATEDRECEPTORS (PPARS)

      Biochimie
    20. MURTHY V; JULIEN P; GAGNE C
      MOLECULAR PATHOBIOLOGY OF THE HUMAN LIPOPROTEIN-LIPASE GENE

      Pharmacology & therapeutics
    21. REUE K; DOOLITTLE MH
      NATURALLY-OCCURRING MUTATIONS IN MICE AFFECTING LIPID TRANSPORT AND METABOLISM

      Journal of lipid research
    22. ROUIS M; LOHSE P; DUGI KA; LOHSE P; BEG OU; RONAN R; TALLEY GD; BRUNZELL JD; SANTAMARINAFOJO S
      HOMOZYGOSITY FOR 2 POINT MUTATIONS IN THE LIPOPROTEIN-LIPASE (LPL) GENE IN A PATIENT WITH FAMILIAL LPL DEFICIENCY - LPL(ASP(9)-]ASN, TYR(262)-]HIS)

      Journal of lipid research
    23. AUWERX J; SCHOONJANS K; FRUCHART JC; STAELS B
      TRANSCRIPTIONAL CONTROL OF TRIGLYCERIDE-METABOLISM - FIBRATES AND FATTY-ACIDS CHANGE THE EXPRESSION OF THE LPL AND APO C-III GENES BY ACTIVATING THE NUCLEAR RECEPTOR PPAR

      Atherosclerosis
    24. MURTHY MRV; JULIEN P; SINGH P; LEVY E
      HUMAN LIPOPROTEIN-LIPASE DEFICIENCY - DOES CHRONIC DYSLIPIDEMIA LEAD TO INCREASED OXIDATIVE STRESS AND MITOCHONDRIAL-DNA DAMAGE IN BLOOD-CELLS

      Acta Biochimica Polonica
    25. ZHANG HF; REYMER PWA; LIU MS; FORSYTHE IJ; GROENEMEYER BE; FROHLICH J; BRUNZELL JD; KASTELEIN JJP; HAYDEN MR; MA YH
      PATIENTS WITH APOE3 DEFICIENCY (E2 2, E3/2, AND E4/2) WHO MANIFEST WITH HYPERLIPIDEMIA HAVE INCREASED FREQUENCY OF AN ASN 291-]SER MUTATIONIN THE HUMAN LPL GENE/

      Arteriosclerosis, thrombosis, and vascular biology
    26. OROU A; FECHNER B; UTERMANN G; MENZEL HJ
      ALLELE-SPECIFIC COMPETITIVE BLOCKER PCR - A ONE-STEP METHOD WITH APPLICABILITY TO POOL SCREENING

      Human mutation
    27. ZENG Q; DAMMERMAN M; TAKADA Y; MATSUNAGA A; BRESLOW JL; SASAKI J
      AN APOLIPOPROTEIN CIII MARKER ASSOCIATED WITH HYPERTRIGLYCERIDEMIA INCAUCASIANS ALSO CONFERS INCREASED RISK IN A WEST JAPANESE POPULATION

      Human genetics
    28. RAISONNIER A; ETIENNE J; ARNAULT F; BRAULT D; NOE L; CHUAT JC; GALIBERT F
      COMPARISON OF THE CDNA AND AMINO-ACID-SEQUENCES OF LIPOPROTEIN-LIPASEIN 8 SPECIES

      Comparative biochemistry and physiology. B. Comparative biochemistry
    29. MINNICH A; KESSLING A; ROY M; GIRY C; DELANGAVANT G; LAVIGNE J; LUSSIERCACAN S; DAVIGNON J
      PREVALENCE OF ALLELES ENCODING DEFECTIVE LIPOPROTEIN-LIPASE IN HYPERTRIGLYCERIDEMIC PATIENTS OF FRENCH-CANADIAN DESCENT

      Journal of lipid research
    30. HSIA SH; CONNELLY PW; HEGELE RA
      SUCCESSFUL OUTCOME IN SEVERE PREGNANCY-ASSOCIATED HYPERLIPEMIA - A CASE-REPORT AND LITERATURE-REVIEW

      The American journal of the medical sciences
    31. NEVIN DN; BRUNZELL JD; DEEB SS
      THE LPL GENE IN INDIVIDUALS WITH FAMILIAL COMBINED HYPERLIPIDEMIA ANDDECREASED LPL ACTIVITY

      Arteriosclerosis and thrombosis
    32. ZAMBON A; HASHIMOTO SI; BRUNZELL JD
      ANALYSIS OF TECHNIQUES TO OBTAIN PLASMA FOR MEASUREMENT OF LEVELS OF FREE FATTY-ACIDS

      Journal of lipid research
    33. WILSON DE; HATA A; KWONG LK; LINGAM A; SHUHUA J; RIDINGER DN; YEAGER C; KALTENBORN KC; IVERIUS PH; LALOUEL JM
      MUTATIONS IN EXON-3 OF THE LIPOPROTEIN-LIPASE GENE SEGREGATING IN A FAMILY WITH HYPERTRIGLYCERIDEMIA, PANCREATITIS, AND NON-INSULIN-DEPENDENT DIABETES

      The Journal of clinical investigation
    34. IGLESIAS A; CONTRERAS JA; MARTINEZPARDO M; ENTRALA A; HERRERA E; LASUNCION MA
      CHOLESTERYL ESTER TRANSFER ACTIVITY IN LIPOPROTEIN-LIPASE DEFICIENCY AND OTHER PRIMARY HYPERTRIGLYCERIDEMIAS

      Clinica chimica acta
    35. GODFREY M; VANDEMARK N; WANG M; VELINOV M; WARGOWSKI D; TSIPOURAS P; HAN J; BECKER J; ROBERTSON W; DROSTE S; RAO VH
      PRENATAL-DIAGNOSIS AND A DONOR SPLICE-SITE MUTATION IN FIBRILLIN IN AFAMILY WITH MARFAN-SYNDROME

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/08/20 alle ore 13:06:18