06573nam 22009375 450 991030016630332120240226093123.03-662-47172-810.1007/978-3-662-47172-2(CKB)3710000000434254(EBL)2095459(SSID)ssj0001524962(PQKBManifestationID)11859579(PQKBTitleCode)TC0001524962(PQKBWorkID)11485635(PQKB)11482376(DE-He213)978-3-662-47172-2(MiAaPQ)EBC2095459(PPN)186397216(EXLCZ)99371000000043425420150617d2015 u| 0engur|n|---|||||txtccrJIMD Reports, Volume 21[electronic resource] /edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters1st ed. 2015.Berlin, Heidelberg :Springer Berlin Heidelberg :Imprint: Springer,2015.1 online resource (127 p.)JIMD Reports,2192-8304 ;21Description based upon print version of record.3-662-47171-X Includes bibliographical references at the end of each chapters.Contents; Di-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 KSUrine Di-sulfated KS Correlation 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; DiscussionSummary and Interpretation Limitations; Concise 1 Sentence Take-Home Message (Synopsis) of the Article, Outlining What the Reader Learns from the Article; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions; References; Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics; Abstract; Introduction; Methods; Participants; Evaluations; Clinical; Nutrition; Neuropsychological; Statistical Analyses; Results; Sample Demographics; Offspring Outcomes; Dysmorphology; Cognitive Functioning and Emotional Well-BeingMaternal Outcomes Maternal 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; DiscussionOne-Sentence Synopsis Compliance 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 Enrollment; 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 CorrelationConclusionJIMD 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.JIMD Reports,2192-8304 ;21Human geneticsMetabolic diseasesPediatricsHuman physiologyHuman Geneticshttps://scigraph.springernature.com/ontologies/product-market-codes/B12008Metabolic Diseaseshttps://scigraph.springernature.com/ontologies/product-market-codes/H33118Pediatricshttps://scigraph.springernature.com/ontologies/product-market-codes/H49006Human Physiologyhttps://scigraph.springernature.com/ontologies/product-market-codes/B13004Genètica humanathubTrastorns del metabolismethubPediatriathubFisiologia humanathubLlibres electrònicsthubHuman genetics.Metabolic diseases.Pediatrics.Human physiology.Human Genetics.Metabolic Diseases.Pediatrics.Human Physiology.Genètica humanaTrastorns del metabolismePediatriaFisiologia humana616.39042Zschocke Johannesedthttp://id.loc.gov/vocabulary/relators/edtBaumgartner Matthiasedthttp://id.loc.gov/vocabulary/relators/edtMorava Evaedthttp://id.loc.gov/vocabulary/relators/edtPatterson Marcedthttp://id.loc.gov/vocabulary/relators/edtRahman Shamimaedthttp://id.loc.gov/vocabulary/relators/edtPeters Verenaedthttp://id.loc.gov/vocabulary/relators/edtMiAaPQMiAaPQMiAaPQBOOK9910300166303321JIMD Reports, Volume 212531371UNINA