000771042 000__ 04686cam\a2200553Ii\4500
000771042 001__ 771042
000771042 005__ 20230306142431.0
000771042 006__ m\\\\\o\\d\\\\\\\\
000771042 007__ cr\un\nnnunnun
000771042 008__ 150619s2015\\\\gw\\\\\\o\\\\\000\0\eng\d
000771042 019__ $$a914434383$$a915125402$$a956680185
000771042 020__ $$a9783662471722$$q(electronic book)
000771042 020__ $$a3662471728$$q(electronic book)
000771042 020__ $$z9783662471715
000771042 0247_ $$a10.1007/978-3-662-47172-2$$2doi
000771042 035__ $$aSP(OCoLC)ocn911200774
000771042 035__ $$aSP(OCoLC)911200774$$z(OCoLC)914434383$$z(OCoLC)915125402$$z(OCoLC)956680185
000771042 040__ $$aN$T$$beng$$erda$$epn$$cN$T$$dGW5XE$$dN$T$$dIDEBK$$dYDXCP$$dUPM$$dOCLCF$$dCOO$$dOCLCO$$dUAB$$dEBLCP$$dCDX$$dOCLCQ$$dKSU$$dIAO$$dIAS$$dIAD$$dJBG
000771042 049__ $$aISEA
000771042 050_4 $$aRC627.8
000771042 08204 $$a616.39042$$223
000771042 24500 $$aJIMD reports.$$nVolume 21 /$$cJohannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor.
000771042 264_1 $$aHeidelberg :$$bSpringer,$$c2015.
000771042 300__ $$a1 online resource.
000771042 336__ $$atext$$btxt$$2rdacontent
000771042 337__ $$acomputer$$bc$$2rdamedia
000771042 338__ $$aonline resource$$bcr$$2rdacarrier
000771042 4901_ $$aJIMD Reports,$$x2192-8304 ;$$v21
000771042 5050_ $$aDi-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB; Abstract; Introduction; Materials and Methods; Materials; Polymer KS; Subjects; Enzymes and Standard; Methods; Sample Preparation; Apparatus; Method Validation; Statistical Analysis; Results; Sulfation Pattern of KS; Calibration Curves; Precision and Accuracy; Analysis of Mono- and Di-sulfated KS; Blood Mono-sulfated KS: Galbeta14GlcNAc(6S); Blood Di-sulfated KS: Galbeta1(6S)4GlcNAc(6S); Correlation Between Mono-sulfated KS and Di-sulfated KS Levels in the Blood; Urine Mono-sulfated KS.
000771042 5058_ $$aUrine Di-sulfated KSCorrelation Between Mono-sulfated KS and Di-sulfated KS Levels in the Urine; Discussion; Conclusions; Compliance With Ethical Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Contributions to the Project; Highlights; References; Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada; Abstract; Introduction; Methods; Sample Selection and Survey Implementation; Questionnaire Content and Data Analysis; Results; Scope of Practice; Human Resources and Clinic Services; Research Capacity; Discussion.
000771042 5058_ $$aMaternal OutcomesMaternal Health and Nutrition; Maternal Cognitive and Emotional Outcomes; Correlations Between Offspring Outcome and Maternal Characteristics; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Author Contributions; References; Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edit ... ; Abstract; Introduction; Metabolic Disorders; Urea Cycle Disorders; Phenylketonuria (PKU); Galactosemia; Fatty Acid Oxidation Disorders; Instruments; Methods; Results; Discussion.
000771042 5058_ $$aOne-Sentence SynopsisCompliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients; Abstract; Introduction; Materials and Methods; Patient Enrolment; GCDH Gene Analysis; In Silico Analysis of Novel Mutations; Results; GCDH Gene Mutations; In Silico Analysis; Genotype and Biochemical Phenotype; Discussion; Clinical Spectrum; Mutation Spectrum; In Silico Analysis of Effect of Mutation on Their Structure; Biochemical, Genotype and Phenotype Correlation.
000771042 506__ $$aAccess limited to authorized users.
000771042 520__ $$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.
000771042 588__ $$aOnline resource; title from PDF title page (SpringerLink, viewed June 22, 2015).
000771042 650_0 $$aMetabolism, Inborn errors of.
000771042 650_0 $$aMetabolism$$xDisorders.
000771042 7001_ $$aZschocke, Johannes,$$eeditor.
000771042 7001_ $$aBaumgartner, Matthias,$$eeditor.
000771042 7001_ $$aMorava, Eva,$$eeditor.
000771042 7001_ $$aPatterson, Marc,$$eeditor.
000771042 7001_ $$aRahman, Shamima,$$eeditor.
000771042 7001_ $$aPeters, Verena,$$eeditor.
000771042 77608 $$iPrint version:$$z9783662471715
000771042 830_0 $$aJIMD reports ;$$v21.
000771042 852__ $$bebk
000771042 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-662-47172-2$$zOnline Access$$91397441.1
000771042 909CO $$ooai:library.usi.edu:771042$$pGLOBAL_SET
000771042 980__ $$aEBOOK
000771042 980__ $$aBIB
000771042 982__ $$aEbook
000771042 983__ $$aOnline
000771042 994__ $$a92$$bISE