LEADER 06047nam 22008415 450 001 9910300341103321 005 20200630172932.0 010 $a3-662-44587-5 024 7 $a10.1007/978-3-662-44587-7 035 $a(CKB)3710000000277576 035 $a(EBL)1968518 035 $a(SSID)ssj0001386567 035 $a(PQKBManifestationID)11814661 035 $a(PQKBTitleCode)TC0001386567 035 $a(PQKBWorkID)11374162 035 $a(PQKB)11003656 035 $a(MiAaPQ)EBC1968518 035 $a(DE-He213)978-3-662-44587-7 035 $a(PPN)183091388 035 $a(EXLCZ)993710000000277576 100 $a20141105d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports Volume 16$b[electronic resource] /$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 (113 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v16 300 $aDescription based upon print version of record. 311 $a3-662-44586-7 320 $aIncludes bibliographical references. 327 $aContents; Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect; Abstract; Introduction; Material and Methods; Patients; Leucine Loading Tests; Urinary Organic Acid Analysis; Leucine Loading Tests in Patients Described in the Literature; Results; Discussion; Disclosures; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta; Abstract; Introduction; Objective 327 $aMaterials and MethodsStatistical Analysis; Results; Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII; Abstract; Introduction; Materials and Method; Subjects; Chemicals and Materials; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; LC-MS/MS Conditions; Calibration Curves; Precision and Accuracy; Chondroitin 6-Sulfate (C6S) Levels 327 $aKeratan Sulfate (KS) LevelCorrelation Between KS and C6S Levels; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; References; Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis; Abstract; Background; Patients and Methods; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References 327 $aCognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson DiseaseAbstract; Introduction; Methods; Data Collection; Statistical Analysis; Results; Discussion; Sources of Support; Synopsis Sentence; Compliance with Ethics Guidelines; Conflict of Interest; Other Disclosures; Informed Consent; Animal Rights; Individual Author Contributions; Guarantor; References; Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I; Abstract; Introduction; Case Report; Methods; Conventional, Pulse Doppler, and Speckle Tracking Echocardiograms 327 $aStatistical AnalysisResults; Clinical Findings After LRT; Echocardiographic Findings After LRT; Relation of LV Weight to Urinary Uronic Acid Concentration, Diastolic Function, and Contraction Synchrony; Discussion; Limitations; Funding; Disclosure; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Author Contributions; Competing Interests; Funding; References; Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis 327 $aDetails of the Contributions of Individual Authors 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,$x2192-8304 ;$v16 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 $a599935 676 $a610 676 $a611.01816 676 $a612 676 $a616.39 676 $a618.92 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aGibson$b K. 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