LEADER 01195nam--2200421---450- 001 990000527340203316 005 20050512120846.0 010 $a88-396-0738-2 035 $a0052734 035 $aUSA010052734 035 $a(ALEPH)000052734USA01 035 $a0052734 100 $a20010626d1998----km-y0itay0103----ba 101 $aita 102 $aIT 105 $a||||||||001yy 200 1 $aDa Sturzo a Novak$eitinerari etici di capitalismo democratico$fMatteo De Girolamo 210 $aRoma$cEdizioni Dehoniane$d1998 215 $a303 p.$d20 cm 225 2 $aFuturoggi 410 $12001$aFuturoggi 606 0 $aCapitalismo 606 0 $aCattolicesimo e capitalismo 606 0 $aSturzo, Luigi 606 0 $aNovak, Michael 676 $a330.122 700 1$aDE GIROLAMO,$bMatteo$0139749 801 0$aIT$bsalbc$gISBD 912 $a990000527340203316 951 $aII 2 1827(XIV 858)$b142907 LM$cXIV 959 $aBK 969 $aUMA 979 $aPATTY$b90$c20010626$lUSA01$h1608 979 $c20020403$lUSA01$h1701 979 $aPATRY$b90$c20040406$lUSA01$h1637 979 $aCOPAT7$b90$c20050512$lUSA01$h1208 996 $aDa Sturzo a Novak$9625226 997 $aUNISA LEADER 05154nam 2200661 a 450 001 9910437985703321 005 20200520144314.0 010 $a3-642-37334-8 024 7 $a10.1007/978-3-642-37334-3 035 $a(CKB)3280000000020568 035 $a(EBL)1316856 035 $a(SSID)ssj0000904301 035 $a(PQKBManifestationID)11545181 035 $a(PQKBTitleCode)TC0000904301 035 $a(PQKBWorkID)10920510 035 $a(PQKB)11365066 035 $a(DE-He213)978-3-642-37334-3 035 $a(MiAaPQ)EBC1316856 035 $a(PPN)170491447 035 $a(EXLCZ)993280000000020568 100 $a20130603d2013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aJIMD reports$hVolume 10 /$fJohannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor 205 $a1st ed. 2013. 210 $aHeidelberg ;$aNew York $cSpringer $cSSIEM$dc2013 215 $a1 online resource (124 p.) 225 1 $aJIMD reports,$x2192-8304 ;$vv. 10 300 $aDescription based upon print version of record. 311 $a3-642-37333-X 320 $aIncludes bibliographical references. 327 $aContents; Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates; Abstract; Introduction; Materials and Methods; Patients; Birth Prevalence; Mutation Analysis; Results; Discussion; Disclosure Statement; References; Chitotriosidase Deficiency: A Mutation Update in an African Population; Abstract; Introduction; Materials and Methods; Subjects; Methods; Plasma Chitotriosidase Assay; CHIT1 Mutation Detection; Population Screening for CHIT1 Mutations; Evaluation of Missense Mutations; Results; Plasma chito activities and CHIT1 genotyping; Discussion and Conclusion 327 $aReferencesNDUFS8-related Complex I Deficiency Extends Phenotype from ``PEO Plus ? ? to Leigh Syndrome; Abstract; Introduction; Case Reports; Patient 1; Patient 2; Patient 3; Results; Discussion; Synopsis; Author Contribution; Funding; Ethical Issues; Competing Interest Statement; References; Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria; Abstract; Introduction; Subjects and Methods; Subjects; Data Collection; Anthropometric Calculations; Statistical Analysis; Results 327 $aDemographics, BMI, and ADP Body CompositionMean Values and Correlations; Bland-Altman Agreement; Variation in Percent Error; Discussion; Agreement of Tested Equations with ADP Results; Adiposity in PKU and Clinical Relevance; Conclusion; Synopsis; Contributions of Individual Authors; Author Serving as Guarantor; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease; Abstract; Introduction; Case Report; Discussion; Synopsis; References 327 $aPrimary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine DeficiencyAbstract; Introduction; References; MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation; Abstract; Introduction; Financial Disclosure; References; Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases; Abstract; Introduction; Method; Participants; Child 1; Child 2; Child 3; Child 4; Measures; Procedure; Descriptive Analyses; Results; Discussion; Clinical Implications and Conclusion; References 327 $aDihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case ReportAbstract; Introduction; Case Report; Biochemical Results; Discussion; Synopsis; References to Electronic Databases; References; Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case; Abstract; Introduction; Report of a Case; Disclosures and Funding; References; Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population; Abstract; Introduction; Objective; Patients and Methods; Study Population; Methods; Statistical Analysis; Results; Discussion 327 $aSynopsis 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 ;$vv. 10. 606 $aMetabolism, Inborn errors of 615 0$aMetabolism, Inborn errors of. 676 $a616.3 676 $a616.39042 701 $aZschocke$b Johannes$0291660 701 $aGibson$b K. Michael$01758394 701 $aBrown$b Garry$01758395 701 $aMorava$b Eva$01758396 701 $aPeters$b Verena$01758397 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910437985703321 996 $aJIMD reports$94196592 997 $aUNINA