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JIMD Reports . Volume 36 / Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.

Contributor(s): Baumgartner, Matthias R., editor literario | Morava, Eva,, editor literario | Patterson, Marc,, editor literario | Peters, Verena,, editor literario | Rahman, Shamima,, editor literario | Zschocke, Johannes,, editor literario
Material type: materialTypeLabelE-bookSeries: (JIMD reports, 2192-8304 ; volume 36).Publisher: Berlin, Germany : Springer International Publishing, 2017Description: 1 recurso en línea (vi, 120 páginas) : ilustraciones (algunas a color).ISBN: 3662561387; 9783662561386.Subject: Metabolismo -- TrastornosOther classification: .B38 2017 EB Online resources: Acceso a este recurso digital (usuarios Universidad Europea de Madrid)Digital Resources
Contents:
""Contents""; ""False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Informed Consent/Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach""; ""Abstract""; ""Introduction""; ""Methods""; ""Accelerometer""; ""Study Protocol""
""Conflicts of Interest""""Ethical Standards""; ""References""; ""Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS...""; ""Abstract""; ""Introduction""; ""Patients and Methods""; ""Results""; ""Discussion and Conclusion""; ""Take Home Message""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?""; ""Abstract""; ""Introduction""
""Details of Ethics Approval/A Patient Consent Statement""""Approval from the Institutional Committee for Care and Use of Laboratory Animals""; ""References""; ""Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment i...""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Subjects""; ""Transcranial Magnetic Stimulation""; ""Results""; ""Patient 1""; ""Patient 2""; ""Patient 3""; ""Patient 4""; ""Effect of Miglustat Treatment on Neurophysiological Parameters""; ""Discussion""; ""Author Contributions""
""Materials and Methods""""Prospective Newborn Screening""; ""Retrospective Screening""; ""Statistics""; ""Results""; ""Length, Weight, Gestational Age and Parity""; ""Apgar""; ""Free Carnitine, fC0""; ""1986-2001, Retrospective Screening""; ""2002-2008, Pilot Project""; ""2009-2014, Routine Newborn Screening""; ""c.95A>G Homozygotes""; ""Discussion""; ""Carnitine Levels in Newborns""; ""Screening Programmes""; ""Differing Genotype Detection""; ""Improve Detection in the Faroe Islands""; ""Conclusion""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""
""Study Protocol for Patients""""Study Protocol for Healthy Controls""; ""Analyses""; ""Feasibility""; ""Face Validity""; ""Patients Versus Controls""; ""Subgroup Analyses""; ""Statistical Analyses""; ""Ethics""; ""Results""; ""Study Population""; ""Feasibility""; ""Face Validity""; ""Patients Versus Controls""; ""Subgroup Analyses""; ""Recommendations""; ""Discussion""; ""Take Home Message""; ""Details of the Contributions of Individual Authors""; ""Name of One Author Who Serves as Guarantor""; ""A Competing Interest Statement""; ""Details of Funding""
Abstract: 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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Holdings
Item type Current library Collection Call number Status Date due Barcode Item holds
LIBRO-E NO PRÉSTAMO LIBRO-E NO PRÉSTAMO Madrid Digital Acceso Electrónico (UEM) Ciencias de la Salud RC627.8 .B38 2017 EB (Browse shelf(Opens below)) Acceso electrónico eBook.20024291
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""Contents""; ""False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency""; ""Abstract""; ""Introduction""; ""Case Report""; ""Discussion""; ""Synopsis""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Informed Consent/Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach""; ""Abstract""; ""Introduction""; ""Methods""; ""Accelerometer""; ""Study Protocol""

""Conflicts of Interest""""Ethical Standards""; ""References""; ""Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS...""; ""Abstract""; ""Introduction""; ""Patients and Methods""; ""Results""; ""Discussion and Conclusion""; ""Take Home Message""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?""; ""Abstract""; ""Introduction""

""Details of Ethics Approval/A Patient Consent Statement""""Approval from the Institutional Committee for Care and Use of Laboratory Animals""; ""References""; ""Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment i...""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Subjects""; ""Transcranial Magnetic Stimulation""; ""Results""; ""Patient 1""; ""Patient 2""; ""Patient 3""; ""Patient 4""; ""Effect of Miglustat Treatment on Neurophysiological Parameters""; ""Discussion""; ""Author Contributions""

""Materials and Methods""""Prospective Newborn Screening""; ""Retrospective Screening""; ""Statistics""; ""Results""; ""Length, Weight, Gestational Age and Parity""; ""Apgar""; ""Free Carnitine, fC0""; ""1986-2001, Retrospective Screening""; ""2002-2008, Pilot Project""; ""2009-2014, Routine Newborn Screening""; ""c.95A>G Homozygotes""; ""Discussion""; ""Carnitine Levels in Newborns""; ""Screening Programmes""; ""Differing Genotype Detection""; ""Improve Detection in the Faroe Islands""; ""Conclusion""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""

""Study Protocol for Patients""""Study Protocol for Healthy Controls""; ""Analyses""; ""Feasibility""; ""Face Validity""; ""Patients Versus Controls""; ""Subgroup Analyses""; ""Statistical Analyses""; ""Ethics""; ""Results""; ""Study Population""; ""Feasibility""; ""Face Validity""; ""Patients Versus Controls""; ""Subgroup Analyses""; ""Recommendations""; ""Discussion""; ""Take Home Message""; ""Details of the Contributions of Individual Authors""; ""Name of One Author Who Serves as Guarantor""; ""A Competing Interest Statement""; ""Details of Funding""

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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.

Online resource; title from PDF title page (SpringerLink, viewed November 17, 2017).

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