05046nam 2200673 a 450 991043799330332120200520144314.01-283-91002-03-642-33433-410.1007/978-3-642-33433-7(CKB)2670000000279438(EBL)1082685(OCoLC)813213127(SSID)ssj0000767073(PQKBManifestationID)11419292(PQKBTitleCode)TC0000767073(PQKBWorkID)10740514(PQKB)10057457(DE-He213)978-3-642-33433-7(MiAaPQ)EBC1082685(PPN)168324474(EXLCZ)99267000000027943820121010d2013 uy 0engur|n|---|||||txtccrJIMD reports case and research reports, 2012/5 /Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor1st ed. 2013.Berlin Springer20131 online resource (153 p.)JIMD reports,2192-8304Description based upon print version of record.3-642-33432-6 Includes bibliographical references.JIMD 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 ActivityASM 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; AbstractIntroductionPatients 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; ReferencesA 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; ReferencesOrthotopic 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 TreatmentCriteria for PrioritizationJIMD 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.JIMD Reports,2192-8304 ;8Metabolism, Inborn errors ofMetabolism, Inborn errors of.616.3/9042Zschocke Johannes291660Gibson K. Michael1758394Brown Garry1758395Morava Eva1758396Peters Verena1758397MiAaPQMiAaPQMiAaPQBOOK9910437993303321JIMD reports4196592UNINA