LEADER 06495nam 22009375 450 001 9910300174003321 005 20240226091936.0 010 $a3-662-47467-0 024 7 $a10.1007/978-3-662-47467-9 035 $a(CKB)3710000000437003 035 $a(EBL)3567502 035 $a(SSID)ssj0001525227 035 $a(PQKBManifestationID)11917445 035 $a(PQKBTitleCode)TC0001525227 035 $a(PQKBWorkID)11498129 035 $a(PQKB)10171530 035 $a(DE-He213)978-3-662-47467-9 035 $a(MiAaPQ)EBC3567502 035 $a(PPN)186397240 035 $a(EXLCZ)993710000000437003 100 $a20150629d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 23$b[electronic resource] /$fedited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters 205 $a1st ed. 2015. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2015. 215 $a1 online resource (128 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v23 300 $aDescription based upon print version of record. 311 $a3-662-47466-2 320 $aIncludes bibliographical references at the end of each chapters. 327 $aContents; Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i...; Abstract; Introduction; Materials and Methods; Cloning and Mutagenesis; Cell Cultures and Growth Media; Results and Discussion; Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT; Galactose Sensitivity of Bacteria Expressing Different hGALT Variants; Arginine Rescue of the hGALT Variants; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent 327 $aAnimal RightsContributions; References; Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Nai?ve or Formerly Treated with Ag...; Abstract; Introduction; Patients and Methods; Treatment Protocol Design and Data Collection; Clinical and Pharmacodynamic Parameters; Data and Statistical Analyses; Results; Safety and Tolerability; Immunogenicity and Other Safety Parameters; Renal Function and Cardiac Structure/Function; Plasma and Urine Biomarkers; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Patient Consent Statement 327 $aDetails of the Contributions of Individual AuthorsReferences; Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5?,6beta-Triol and Further Insight into t...; Abstract; Introduction; Materials and Methods; LC-MS/MS; GC/MS; Mutation Analysis; Filipin Staining; Chitotriosidase Activity; Results; Case Reports; Patient 1; Patient 2; Patient 3; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References 327 $aThe Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type SpecificAbstract; Introduction; Materials and Methods; Synopsis of the Laboratory Protocol; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Declaration; References; The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ...; Abstract; Introduction; Methods; Study Design; Study Population; Study Variables; Assessments; Study Size; Minimizing Bias 327 $aStatistical AnalysesResults; Patients; BH4 Responsiveness; Safety; Sapropterin Treatment; Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months; Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months; Growth; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Contributions of Individual Authors; References; Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease; Abstract; Introduction; Materials and Methods; Results; Patient 1; Postmortem Examination 327 $aSmooth Muscle 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,$x2192-8304 ;$v23 606 $aHuman genetics 606 $aMetabolic diseases 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 $aTrastorns del metabolisme$2thub 606 $aPediatria$2thub 606 $aFisiologia humana$2thub 608 $aLlibres electrònics$2thub 615 0$aHuman genetics. 615 0$aMetabolic diseases. 615 0$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$aTrastorns del metabolisme 615 7$aPediatria 615 7$aFisiologia humana 676 $a616.39042 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBaumgartner$b Matthias$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aMorava$b Eva$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aPatterson$b Marc$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aRahman$b Shamima$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 $a9910300174003321 996 $aJIMD Reports$91867633 997 $aUNINA