JIMD Reports Volume 36
JIMD Reports Volume 36
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
- 1 recurso en línea (vi, 120 páginas) ilustraciones (algunas a color)
- JIMD reports volume 36 2192-8304 .
""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""
Access restricted to subscribing institutions.
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.
3662561387 9783662561386
Metabolismo--Trastornos
RC627.8 / 2017 EB
""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""
Access restricted to subscribing institutions.
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.
3662561387 9783662561386
Metabolismo--Trastornos
RC627.8 / 2017 EB