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Record Nr. |
UNINA9910300166303321 |
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Titolo |
JIMD Reports, Volume 21 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters |
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Pubbl/distr/stampa |
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Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015 |
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ISBN |
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Edizione |
[1st ed. 2015.] |
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Descrizione fisica |
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1 online resource (127 p.) |
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Collana |
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JIMD Reports, , 2192-8304 ; ; 21 |
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Disciplina |
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Soggetti |
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Human genetics |
Metabolic diseases |
Pediatrics |
Human physiology |
Human Genetics |
Metabolic Diseases |
Human Physiology |
Genètica humana |
Trastorns del metabolisme |
Pediatria |
Fisiologia humana |
Llibres electrònics |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references at the end of each chapters. |
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Nota di contenuto |
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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 KS |
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Urine 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; Discussion |
Summary 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-Being |
Maternal 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; Discussion |
One-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 Correlation |
Conclusion |
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Sommario/riassunto |
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JIMD 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. |
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