LEADER 06011nam 22007815 450 001 9910438025403321 005 20200705154210.0 010 $a3-642-37328-3 024 7 $a10.1007/978-3-642-37328-2 035 $a(CKB)3710000000015852 035 $a(EBL)1398754 035 $a(SSID)ssj0000988182 035 $a(PQKBManifestationID)11572616 035 $a(PQKBTitleCode)TC0000988182 035 $a(PQKBWorkID)10950049 035 $a(PQKB)10668947 035 $a(DE-He213)978-3-642-37328-2 035 $a(MiAaPQ)EBC1398754 035 $a(PPN)172426227 035 $a(EXLCZ)993710000000015852 100 $a20130826d2013 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports - Volume 11$b[electronic resource] /$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 (172 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v11 300 $aDescription based upon print version of record. 311 $a3-642-37327-5 320 $aIncludes bibliographical references. 327 $aContents; Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment; Abstract; Introduction; Case Report; Discussion; Contributors; References; Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency; Abstract; Introduction; Case Report; Discussion; Synopsis; Contributions; Conflict of Interest; References 327 $aA Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine SequencingAbstract; Introduction; Case Report; Discussion; Conclusion; Take-Home Message; Details of the Contributions of Individual Authors; Guarantor for the Article; Conflict of Interests Statement; Ethics Approval; Patient Consent Statement; References; Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures; Abstract; Introduction; Patient Presentation; Discussion; Synopsis; Conflict of Interest 327 $aContributor ?s Statement PageReferences; Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia; Introduction; Material and Methods; Case Reports; Discussion; Concise Sentence Take-Home Message; Reference to Electronic Databases; Conflict of Interest; References; Motor and Speech Disorders in Classic Galactosemia; Abstract; Methods; Statistical Analysis; Results; Speech; Strength; Coordination; Days on Milk; Discussion; Speech; Strength; Coordination; Days on Milk; Common Underlying Etiology; Limitations and Recommendations; One Sentence Synopsis 327 $aDetails of the Contributions of Individual AuthorsName of One Author Who Serves as Guarantor; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflicts of Interest; Funding; Take-Home Message; References; Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in ?-Mannosidosis; Abstract; Introduction; Patient; Methods; Results; Discussion 327 $aConclusionReferences; Early Cardiac Changes in Children with Anderson-Fabry Disease; Abstract; Introduction; Methods; Study Population; Echocardiography; ECG Data and Holter Monitoring; Statistical Analysis; Results; Study Population Characteristics; Progression of Left Ventricular Hypertrophy; 12-Leads ECG Parameters; Holter ECG Parameters; Discussion; Left Ventricular Mass and Left Ventricular Hypertrophy; T Wave Inversion; ECG LV Mass Indexes; 24-h ECG Monitors; Conduction Intervals; N215S Mutation; Limitations; Conclusion; Synopsis; Details of the Contributions of Individual Authors 327 $aGuarantor Author 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,$x2192-8304 ;$v11 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 $a616.39042 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 $a9910438025403321 996 $aJIMD Reports - Volume 11$92257648 997 $aUNINA