LEADER 06480nam 22009495 450 001 9910300066603321 005 20260213093456.0 010 $a3-662-43748-1 024 7 $a10.1007/978-3-662-43748-3 035 $a(CKB)3710000000269805 035 $a(EBL)1968542 035 $a(SSID)ssj0001372675 035 $a(PQKBManifestationID)11888491 035 $a(PQKBTitleCode)TC0001372675 035 $a(PQKBWorkID)11312973 035 $a(PQKB)10008457 035 $a(MiAaPQ)EBC1968542 035 $a(DE-He213)978-3-662-43748-3 035 $a(PPN)182095568 035 $a(EXLCZ)993710000000269805 100 $a20141029d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 14 /$fedited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters 205 $a1st ed. 2014. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2014. 215 $a1 online resource (116 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v14 300 $aDescription based upon print version of record. 311 08$a3-662-43747-3 320 $aIncludes bibliographical references. 327 $aContents; Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) G...; Abstract; Introduction; Materials and Methods; Patients; ARSB Mutation Analysis; Sequence Variations Nomenclature; Analysis of the New Missense Sequence Variation; Results; Genotype-Phenotype Correlation; Family Studies; Discussion; One-Sentence Take-Home Message; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Conflict of Interest 327 $aReferencesDanon Disease Due to a Novel LAMP2 Microduplication; Abstract; Introduction; Methods; Results; Discussion; Acknowledgments; Synopsis; Compliance with Ethics Guidelines; Author Contributions; References; Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis; Abstract; Introduction; Case Reports; Discussion; One-Sentence Take-Home Message; Contribution of Individual Authors; References; Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study; Abstract; Introduction; Materials and Methods; DBS Samples; Enzyme Assay; Results and Discussion 327 $aConclusionConflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Abnormalities in Glycogen Metabolism in a Patient with Alpers´ Syndrome Presenting with Hypoglycemia; Abstract; Introduction; Case Report; Discussion; Competing Interest; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions of Individual Authors; References; Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III; Abstract; Introduction; Methods; Results; Basal Metabolic Rate 327 $aNutritional StatusDiscussion; Conclusion; Summary; References; Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome; Abstract; Introduction; Conclusions; Compliance with Ethics Guidelines; Informed Consent; References; Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study; Abstract; Introduction; Methods; Statistical Analysis; Results; Discussion; Conclusions; Compliance with Ethics Guidelines; References 327 $aThe Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobi...Abstract; Introduction; Materials and Methods; Results; Discussion; Conflict of Interest; Synopsis; Compliance with Ethics Guidelines; Details of Contributions of Individual Authors; References; Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor; Abstract; Introduction; Case Report; Discussion; Conflict of Interest; Informed Consent; Contributions of Individual Authors; References 327 $aThirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years´ Experience 330 $aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. 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