LEADER 06126nam 22008055 450 001 9910300343303321 005 20200630231934.0 010 $a3-642-54149-6 024 7 $a10.1007/978-3-642-54149-0 035 $a(CKB)3710000000205446 035 $a(EBL)1783246 035 $a(OCoLC)890981365 035 $a(SSID)ssj0001297320 035 $a(PQKBManifestationID)11696478 035 $a(PQKBTitleCode)TC0001297320 035 $a(PQKBWorkID)11363390 035 $a(PQKB)10505972 035 $a(MiAaPQ)EBC1783246 035 $a(DE-He213)978-3-642-54149-0 035 $a(PPN)179923994 035 $a(EXLCZ)993710000000205446 100 $a20140724d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports - Case and Research Reports, Volume 13$b[electronic resource] /$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 (164 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v13 300 $aDescription based upon print version of record. 311 $a3-642-54148-8 320 $aIncludes bibliographical references. 327 $a""Contents""; ""Newborn Screening for Glutaric Aciduria-II: The New England Experience""; ""Abstract""; ""Introduction""; ""Methods and Population""; ""Results""; ""Discussion""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent/Human or Animal Studies""; ""Authors Attestations""; ""References""; ""Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening...""; ""Abstract""; ""Introduction""; ""Washington Newborn Screening""; ""Analyte Selection and Review""; ""Cutoff Determinations""; ""Post-Analytical Tools"" 327 $a""Limitations""""Conclusion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Animal Rights and Human Subjects""; ""Details of the Contributions of Individual Authors""; ""References""; ""Application of a Second-Tier Newborn Screening Assay for C5 Isoforms""; ""Abstract""; ""Introduction""; ""Case Report""; ""Materials and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Details of the Contributions of Individual Authors""; ""References""; ""Cystinosis with Sclerotic Bone Lesions""; ""Abstract""; ""Case Report""; ""Discussion"" 327 $a""Conclusion""""Conflict of Interest""; ""Informed Consent""; ""Contributions of the Individual Authors""; ""References""; ""Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Take-Home Message""; ""Compliance with Ethical Guidelines""; ""References""; ""Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation""; ""Abstract""; ""Case Report""; ""Discussion""; ""Summary""; ""Compliance with Ethics Guidelines""; ""References"" 327 $a""Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprote...""""Abstract""; ""Introduction""; ""Materials and Methods""; ""Subject""; ""Diet Loading Test""; ""GC-MS Analysis""; ""LC-MS/MS Analysis""; ""Cell Culture""; ""RT-PCR""; ""PCR-Restriction Fragment Length Polymorphism (PCR-RFLP)""; ""Results""; ""Feline MADD""; ""Sequencing of Feline ETFI?±, ETFbeta, and ETFDH""; ""Presence of a Novel Mutation in the Cat with MADD""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""References"" 327 $a""Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome""""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""References""; ""Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach ...""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Patient""; ""Exchange Transfusion (ET) Procedure""; ""Analysis of LPL Gene""; ""Results"" 327 $a""ET Procedure and Follow-Up"" 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,$x2192-8304 ;$v13 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 $a616.3/9042 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 $a9910300343303321 996 $aJIMD Reports - Case and Research Reports, Volume 13$92540411 997 $aUNINA