LEADER 06533nam 22009375 450 001 9910300178403321 005 20251116135142.0 010 $a3-662-46190-0 024 7 $a10.1007/978-3-662-46190-7 035 $a(CKB)3710000000449439 035 $a(EBL)3567681 035 $a(SSID)ssj0001534483 035 $a(PQKBManifestationID)11945511 035 $a(PQKBTitleCode)TC0001534483 035 $a(PQKBWorkID)11494453 035 $a(PQKB)10428703 035 $a(DE-He213)978-3-662-46190-7 035 $a(MiAaPQ)EBC3567681 035 $a(PPN)187686513 035 $a(EXLCZ)993710000000449439 100 $a20150713d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 19 /$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 (122 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v19 300 $aDescription based upon print version of record. 311 08$a3-662-46189-7 320 $aIncludes bibliographical references at the end of each chapters. 327 $aContents; A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia; Abstract; Introduction; Methods; Study Volunteers; GALT Genotyping of DNA from the Child; GALT Genotyping of DNA from Both Parents; Affymetrix 6.0 Microarray Analysis of Genomic Markers in the Trio; Results; Case Report; Dideoxy Sequencing Reveals a Novel GALT Variant in a Child with Classic Galactosemia; Dideoxy Sequencing of Parental GALT Loci Coupled with Comprehensive Genomic SNP Analysis of the Trio Reveals that c.563A>C (p....; Discussion; 1-Sentence Synopsis 327 $aCompliance with Ethical GuidelinesConflict of Interest; Informed Consent; Animal Rights; Contributions of Each Author; References; Refsum Disease Presenting with a Late-Onset Leukodystrophy; Abstract; Discussion; One Sentence Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Making the White Matter Matters: Progress in Understanding Canavans? Disease and Therapeutic Interventions Through Eight Decad...; Abstract; Clinical Description 327 $aAspartoacylase: Biochemistry and GeneticsCharacterization of the Substrate; Theories Behind the Molecular Etiology of CD; Molecular Water Pump (MWP) and Osmolyte Imbalance Theory; Dysmyelination Theory; Deficiency of AspA-Derived Acetate Compromises Oligodendrocyte Differentiation; Protein Folding and Stabilization Theory; Oxidative Stress Theory; Treatment Strategies; Palliative Measures; Symptomatic Treatment of Disease; Addressing Elevated Substrate in the Context of Deficient Aspartoacylase; Addressing the Deficiency of the Enzyme Aspartoacylase 327 $aGene Therapy Using Gene Replacement StrategyPerspectives and Future Directions; One Sentence Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease; Abstract; Introduction; Methods; Participants; Procedure; Measures; Eating Disorders Inventory-3 (EDI-3); Eating Disorders Inventory-Child (EDI-C); Eating Attitudes Test (EAT); Childrens? Eating Attitude Test (ChEAT); Body Esteem Scale (BES) 327 $aBody Esteem Scale for Children (BES-C)Open-Ended Interview; Data Analysis; Results; Bullying/Teasing; Weight; Height; Negative Body Image; Positive Body Image; Age-Related Acceptance; Discussion; Conclusions; Compliance with Ethics Guidelines; Synopsis; Conflict of Interest; Informed Consent; Author Contributions; References; One Year Experience of Pheburane (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Authors ?Contributions; References 327 $aGrowth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature 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,$x2192-8304 ;$v19 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 $a9910300178403321 996 $aJIMD Reports, Volume 19$92535760 997 $aUNINA