LEADER 01240nam--2200385---450- 001 990003592400203316 005 20111121151850.0 010 $a978-88-7638-264-2 035 $a000359240 035 $aUSA01000359240 035 $a(ALEPH)000359240USA01 035 $a000359240 100 $a20111117d2011----km-y0itay50------ba 101 1$aita$ceng 102 $aIT 105 $aa---||||001yy 200 1 $aInterviste extraterrestri$fStanley Kubrick$ga cura di Anthony Frewin$gtraduzione di Elisabetta Nifosi$grevisione di Paola Rizzuto$gprefazione di Arthur C. Clarke$gintroduzione di Enrico Ghezzi 210 $aMilano$cIsbn$d2011 215 $aXXXIX, 229 p.$cill.$d19 cm 454 0$12001$aAre we alone?$952095 606 0 $aOrganismi$xMondi extraterrestri$2BNCF 676 $a576.839 700 1$aKUBRICK,$bStanley$0388703 702 1$aFREWIN,$bAnthony 702 1$aNIFOSI,$bElisabetta 702 1$aRIZZUTO,$bPaola 801 0$aIT$bsalbc$gISBD 912 $a990003592400203316 951 $aII.6. 1408$b6288 L.M.$cII.6.$d00267818 959 $aBK 969 $aUMA 979 $aPASSARO$b90$c20111117$lUSA01$h1142 979 $aPASSARO$b90$c20111121$lUSA01$h1518 996 $aAre we alone$952095 997 $aUNISA LEADER 06463nam 22009375 450 001 9910300078203321 005 20260211101934.0 010 $a3-319-03461-8 024 7 $a10.1007/978-3-319-03461-4 035 $a(CKB)2550000001199607 035 $a(EBL)1698326 035 $a(OCoLC)880458183 035 $a(SSID)ssj0001178442 035 $a(PQKBManifestationID)11675370 035 $a(PQKBTitleCode)TC0001178442 035 $a(PQKBWorkID)11168958 035 $a(PQKB)10358893 035 $a(MiAaPQ)EBC1698326 035 $a(DE-He213)978-3-319-03461-4 035 $a(PPN)176107940 035 $a(EXLCZ)992550000001199607 100 $a20140121d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports - Volume 12 /$fedited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters 205 $a1st ed. 2014. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2014. 215 $a1 online resource (130 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v12 300 $aDescription based upon print version of record. 311 08$a3-319-03460-X 320 $aIncludes bibliographical references at the end of each chapters. 327 $a""Contents""; ""Propionic Acidemia and Optic Neuropathy: A Report of Two Cases""; ""Abstract""; ""Introduction""; ""Case Reports""; ""Discussion""; ""Synopsis""; ""References""; ""Chronic Kidney Disease in an Adult with Propionic Acidemia""; ""Abstract""; ""Introduction""; ""Methods and Results""; ""Clinical Summary""; ""Renal Evaluation""; ""Summary and Discussion""; ""Synopsis""; ""References""; ""Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome""; ""Abstract""; ""Introduction""; ""Case Presentation""; ""Discussion""; ""Synopsis"" 327 $a""References""""Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation""; ""Abstract""; ""Introduction""; ""Methods""; ""Study Design and Population""; ""Statistical Analysis""; ""Results""; ""Discussion""; ""Study Limitations""; ""Conclusion""; ""Contribution""; ""Disclosures""; ""References""; ""Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes""; ""Abstract""; ""Introduction""; ""Case Report""; ""Genetic Testing""; ""Results and Discussion""; ""Synopsis"" 327 $a""Compliance with Ethics Guidelines""""References""; ""Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome""; ""Abstract""; ""Introduction""; ""Clinical Description""; ""Discussion""; ""Take-Home Messages""; ""References""; ""A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Clinical Data""; ""Enzyme Measurements""; ""SNP Array Analysis and Homozygosity Mapping""; ""Mutation Analysis""; ""Blue Native, SDS-PAGE, and In-Gel Activity Assays"" 327 $a""Antibodies and ECL Detection""""Lentiviral Complementation of Patient Fibroblasts""; ""Riboflavin Treatment of Patient Cells""; ""Modeling""; ""Results""; ""Enzyme Measurements and Gel Analyses""; ""Gene and Conservation Analyses""; ""Modeling of the p.Ala220Val Mutation""; ""Functional Complementation""; ""Riboflavin Treatment of Fibroblasts""; ""Discussion""; ""Take-Home Message""; ""References""; ""Pulmonary Manifestations in a Patient with Transaldolase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Conclusion""; ""Conflict of Interest"" 327 $a""AuthorsA?? Contributions""""Take-Home Message""; ""References""; ""Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility""; ""Abstract""; ""Introduction""; ""Material and Methods""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Details of the Contributions of Individual Authors""; ""References""; ""A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message"" 327 $a""Compliance with Ethics Guidelines"" 330 $aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. 410 0$aJIMD Reports,$x2192-8304 ;$v12 606 $aHuman genetics 606 $aMetabolism$xDisorders 606 $aPediatrics 606 $aHuman physiology 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aMetabolic Diseases$3https://scigraph.springernature.com/ontologies/product-market-codes/H33118 606 $aPediatrics$3https://scigraph.springernature.com/ontologies/product-market-codes/H49006 606 $aHuman Physiology$3https://scigraph.springernature.com/ontologies/product-market-codes/B13004 606 $aGenètica humana$2thub 606 $aFisiologia humana$2thub 606 $aTrastorns del metabolisme$2thub 606 $aPediatria$2thub 608 $aLlibres electrònics$2thub 615 0$aHuman genetics. 615 0$aMetabolism$xDisorders. 615 0$aPediatrics. 615 0$aHuman physiology. 615 14$aHuman Genetics. 615 24$aMetabolic Diseases. 615 24$aPediatrics. 615 24$aHuman Physiology. 615 7$aGenètica humana 615 7$aFisiologia humana 615 7$aTrastorns del metabolisme 615 7$aPediatria 676 $a616.39042 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aGibson$b Kenneth Michael$f1955-$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBrown$b Garry$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aMorava$b Eva$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aPeters$b Verena$4edt$4http://id.loc.gov/vocabulary/relators/edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910300078203321 996 $aJIMD Reports - Volume 12$92523472 997 $aUNINA