LEADER 05465nam 2200745 a 450 001 9910438005803321 005 20200520144314.0 010 $a1-283-63178-4 010 $a9786613944238 010 $a3-642-32442-8 024 7 $a10.1007/978-3-642-32442-0 035 $a(CKB)2670000000253927 035 $a(EBL)1030631 035 $a(OCoLC)811249957 035 $a(SSID)ssj0000767072 035 $a(PQKBManifestationID)11478197 035 $a(PQKBTitleCode)TC0000767072 035 $a(PQKBWorkID)10733006 035 $a(PQKB)11349138 035 $a(DE-He213)978-3-642-32442-0 035 $a(MiAaPQ)EBC1030631 035 $a(PPN)168321823 035 $a(EXLCZ)992670000000253927 100 $a20120925d2013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aJIMD reports-- case and research reports, 2012/4 /$fJohannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor 205 $a1st ed. 2013. 210 $aHeidelberg $cSpringer $cSSIEM$d2013 215 $a1 online resource (131 p.) 225 0$aJIMD reports,$x2192-8304 ;$vv. 7 300 $aDescription based upon print version of record. 311 $a3-642-32441-X 320 $aIncludes bibliographical references. 327 $aJIMD Reports -Case and Research Reports, 2012/4; Contents; Necrotizing Enterocolitis and Respiratory Distress Syndromeas First Clinical Presentation of Mitochondrial TrifunctionalProtein Deficiency; Abstract; Introduction; Materials and Methods; Case 1; Case 2; Classification; Analytical Methods; Discussion; Synopsis; Conflict of Interest; References; Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?; Abstract; Introduction; Case Report; Discussion; References; Hereditary Intrinsic Factor Deficiency in Chaldeans; Abstract 327 $aIntroductionPatients and Methods; Patients and Samples; Methods; Results and Discussion; Declaration; Synopsis; Authors ? Contributions; References to Electronic Databases; References; Mutation Analysis in Glycogen Storage DiseaseType III Patients in the Netherlands: NovelGenotype-Phenotype Relationships and FiveNovel Mutations in the AGL Gene; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflicts of Interest; References; Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency; Abstract; Introduction; Case Report; Discussion 327 $aReferencesQuality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease; Abstract; Introduction; Methods; Medical Outcomes Study: 36-Item Short Form Health Survey (SF-36); Statistical Analysis; Definition of Clinically Significant Change; Results; Gaucher Disease (n=21); Fabry Disease (n=14); Comparisons Between GD and FD Patients Receiving ERT and Other Populations; Discussion; Gaucher Disease; Fabry Disease; Conclusion; Synopsis of the Article; Authors Contributions; Guarantor for the Article; Competing Interest; Funding; Ethics Approval; Patient Consent; References 327 $aIdentification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseAbstract; Introduction; Material and Methods; Patients; GAA Mutational Analysis; Functional Analysis of GAA Mutations; Results; GAA Mutation Detection and In Silico Analysis; Functional Characterization of GAA Mutations; Discussion; References; Successful Live Birth following Preimplantation GeneticDiagnosis for Phenylketonuria in Day 3 Embryos by SpecificMutation Analysis and Elective Single Embryo Transfer; Abstract; Introduction; Materials and Methods; Results; Discussion 327 $aSynopsisConflict of Interest; References; The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I; Abstract; Introduction; Methods; Results; Discussion; Synopsis; References to Electronic Databases; References; Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome; Introduction; Case Report; Discussion; Conclusions; Conflict of Interest Statement; References; Autism Spectrum Disorder in a Child with Propionic Acidemia; Abstract; Introduction; Case Report; Psychiatric Evaluation; Discussion; Synopsis 327 $aCompeting Interests 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,$x2192-8304 ;$v7 606 $aMetabolism, Inborn errors of 606 $aMetabolism$xDisorders 606 $aMedical genetics 615 0$aMetabolism, Inborn errors of. 615 0$aMetabolism$xDisorders. 615 0$aMedical genetics. 676 $a616.3/9042 676 $a616.39042 701 $aBrown$b Garry$01758395 701 $aZschocke$b Johannes$0291660 701 $aGibson$b K. Michael$01758394 701 $aMorava$b Eva$01758396 701 $aPeters$b Verena$01758397 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910438005803321 996 $aJIMD reports-- case and research reports, 2012$94201347 997 $aUNINA