LEADER 05980nam 22008055 450 001 9910437993303321 005 20200630003852.0 010 $a1-283-91002-0 010 $a3-642-33433-4 024 7 $a10.1007/978-3-642-33433-7 035 $a(CKB)2670000000279438 035 $a(EBL)1082685 035 $a(OCoLC)813213127 035 $a(SSID)ssj0000767073 035 $a(PQKBManifestationID)11419292 035 $a(PQKBTitleCode)TC0000767073 035 $a(PQKBWorkID)10740514 035 $a(PQKB)10057457 035 $a(DE-He213)978-3-642-33433-7 035 $a(MiAaPQ)EBC1082685 035 $a(PPN)168324474 035 $a(EXLCZ)992670000000279438 100 $a20121009d2013 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports - Case and Research Reports, 2012/5$b[electronic resource] /$fedited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters 205 $a1st ed. 2013. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2013. 215 $a1 online resource (153 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v8 300 $aDescription based upon print version of record. 311 $a3-642-33432-6 320 $aIncludes bibliographical references. 327 $aJIMD Reports - Case and Research Reports, 2012/5; Contents; The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity; Abstract; Introduction; Materials and Methods; Ethics Statement; Subjects; Genotyping; Overexpression of ASM Variants; Western Blot Analysis; In Vitro Determination of ASM Activity; Web Resources; Results; High Frequency of ASM Sequence Variation c.1460C>T in the General Population; Carriers of c.1460C>T Do Not Display Decreased Levels of ASM Activity 327 $aASM Variant p.A487V is Catalytically Active Upon Transient OverexpressionDiscussion; Author Contributions; References; The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE; Abstract; Introduction; Methods; Case Reports; Discussion; Conclusion; References; A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine; Abstract; Introduction; Methods; Preparation of the Study Reagents; Statistical Analysis; Results; Discussion; References; ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients; Abstract 327 $aIntroductionPatients and Methods; Patients; Blood/Serum Transferrin IEF; ALG6 Mutation Analysis; Results; Clinical and Biochemical Description of Patients; Blood/Serum Transferrin IEF; ALG6 Mutational Analysis; Discussion; Competing Interests; References; Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?; Abstract; Introduction; Case Report; Discussion; Acknowledgments; References 327 $aA Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage DisordersAbstract; Background; Methods; Ethics Approvals; Participants; 3D Image Acquisition; Anthropometric Masks and Facial Mapping; Statistical Face-Space; Dysmorphometrics and Normal Equivalents; Scoring, Analysis and Visualisation of Facial Variants; Normative Population Reference Statistics; Results; Discussion; Conclusions; Authors ? Information; Synopsis; Authors ? Contributions; Guarantor; Competing Interests; References 327 $aOrthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage DiseaseAbstract; Introduction; Case History; Discussion; Synopsis; Conflicts of Interest and Financial Disclosures; References; Inheritance of the m.3243A>G mutation; Abstract; Introduction; Methods; Results; Discussion; Conflicts of Interest; Key Sentence/Synopsis; References; Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage; Abstract; Background; Methods; Results and Discussion; ERT Current Situation; Basic Principles of Treatment 327 $aCriteria for Prioritization 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,$x2192-8304 ;$v8 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$3https://scigraph.springernature.com/ontologies/product-market-codes/B13004 615 0$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. 676 $a616.3/9042 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aGibson$b K Michael$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 906 $aBOOK 912 $a9910437993303321 996 $aJIMD Reports - Case and Research Reports, 2012$91919304 997 $aUNINA