LEADER 06440nam 22009495 450 001 9910300221603321 005 20250609111354.0 010 $a3-662-44863-7 024 7 $a10.1007/978-3-662-44863-2 035 $a(CKB)3710000000377981 035 $a(EBL)2095457 035 $a(SSID)ssj0001465576 035 $a(PQKBManifestationID)11837498 035 $a(PQKBTitleCode)TC0001465576 035 $a(PQKBWorkID)11490492 035 $a(PQKB)11657013 035 $a(DE-He213)978-3-662-44863-2 035 $a(MiAaPQ)EBC2095457 035 $a(PPN)184890713 035 $a(MiAaPQ)EBC3108572 035 $a(EXLCZ)993710000000377981 100 $a20150316d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 18 /$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 (138 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v18 300 $aDescription based upon print version of record. 311 08$a3-662-44862-9 320 $aIncludes bibliographical references. 327 $aContents; Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome); Abstract; Introduction; Methods; Data Source for Integrated Height Analysis; Definitions of Slowly and Rapidly Progressive Disease; Laboratory Assessments; Statistical Methods; Results; Demographics; MPS VI Growth Curves; Growth of Rapidly and Slowly Progressing MPS VI Patients; MPS VI Growth Charts and Z-Scores for Rapidly and Slowly Progressing MPS VI Patients; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Patient Consent Statement 327 $aContributions of Individual AuthorsReferences; Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Beha...; Abstract; Introduction; Methods; Sample; HCPs; Patients; Procedure; Qualitative Research; Quantitative Research; Results; Sample Characteristics; Psychological Well-Being and Social Support; Relationship with HCPs; Perceptions of Illness and Treatment; Adherence; Factors Associated with Adherence to Diet and Medication; Illness Experience and Perceptions; Treatment Perceptions and Experiences 327 $aPatient and Family FactorsDiscussion; Recommendations and Conclusions; Disclaimer; Source of Support; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I; Abstract; Introduction; Methods; Results; Discussion; Take Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Financial Disclosure; Other Relationships; Ethics Approval; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors 327 $aReferencesProteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal ?-Glucosidase in Pompe Disease; Abstract; Introduction; Materials and Methods; Chemicals and Antibodies; Cell Cultures; Western Blot Analysis; Immunocytochemistry; Site-Directed Mutagenesis and Expression of Mutated GAA in HEK293T Cells; Quantitative Analyses of Proteins and GAA Activity; Results; Bortezomib Improves the Activity of Several Mutant GAAs in Fibroblasts from Patients with Pompe Disease 327 $aBortezomib Improves the Maturation and Intracellular Localization of Mutant GAAs in Patient Fibroblasts Carrying M519V and C64...Bortezomib Increases the Activity of Several Mutant GAAs in HEK293T Cells; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Disclosures; Informed Consent; Animal Rights; Contribution; References; Cognitive Function in Adults Aging with Fabry Disease: A Case-Control Feasibility Study Using Telephone-Based Assessments; Abstract; Introduction; Methods; Participants and Procedures; Participants with Fabry Disease; Control Participants 327 $aMeasures 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,$x2192-8304 ;$v18 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 $aTrastorns del metabolisme$2thub 606 $aPediatria$2thub 606 $aFisiologia humana$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$aGenètica humana 615 7$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 $a9910300221603321 996 $aJIMD Reports, Volume 18$92504773 997 $aUNINA