LEADER 06486nam 22009375 450 001 9910300233803321 005 20240226090541.0 010 $a3-662-46700-3 024 7 $a10.1007/978-3-662-46700-8 035 $a(CKB)3710000000379745 035 $a(EBL)3109229 035 $a(SSID)ssj0001465577 035 $a(PQKBManifestationID)11825660 035 $a(PQKBTitleCode)TC0001465577 035 $a(PQKBWorkID)11478887 035 $a(PQKB)10156043 035 $a(DE-He213)978-3-662-46700-8 035 $a(MiAaPQ)EBC3109229 035 $a(PPN)184890721 035 $a(EXLCZ)993710000000379745 100 $a20150326d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 20$b[electronic resource] /$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 (120 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v20 300 $aDescription based upon print version of record. 311 $a3-662-46699-6 320 $aIncludes bibliographical references at the end of each chapters. 327 $aContents; Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings; Abstract; Introduction; Subjects, Methods, and Results; Case 1; Case 2; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Statements; Details of the Contributions of Individual Authors; References; Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease; Abstract; Introduction; Methods; Patient Population; Questionnaire Details; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines 327 $aConflict of InterestReferences; Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature; Abstract; Introduction; Case Reports; Results and Discussion; Clinical and Laboratory Presenting Findings; Biochemical Findings; Mutational Findings; Long-Term Prognosis; Dietary Treatment and Monitoring; Final Considerations; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References 327 $aLack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of GlucokinaseAbstract; Introduction; Case History and Glibenclamide Treatment; Methods; Genetic Studies; Enzymatic Analysis of Wild-Type and Mutant GCK; Statistical Analysis; Results; Identification of GCK Mutations; Functional Characterisation of p.Ile19Asn Mutation; Glibenclamide Treatment; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References 327 $aMorphology and Function of Cerebral Arteries in Adults with Pompe DiseaseAbstract; Introduction; Patients and Methods; Patients; Gd-MRA; Sonography; Statistics; Informed Consent and Ethics; Results; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Individual Contributions; References; Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?; Abstract; Introduction; Patients and Methods; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contribution of the Authors; References 327 $aCharacterization of Variegate Porphyria Mutations Using a Minigene ApproachAbstract; Introduction; Materials and Methods; Patients; Constructs; Minigenes Expression Assays; Statistical Analysis; Bioinformatic Tools; Results; Discussion; Synopsis; Details of Contribution of Individual Authors; Conflict of Interest; Details of Funding; Details of Ethic Approval; References; Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disab...; Abstract; Introduction; Clinical Report; Patient 1; Patient 2; Methods; Array-CGH 327 $aMolecular Investigations 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,$x2192-8304 ;$v20 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 $a9910300233803321 996 $aJIMD Reports, Volume 20$92537604 997 $aUNINA