JIMD reports. Volume 36 /

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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Bibliographic Details
Other Authors: Morava, Eva, (Editor), Baumgartner, Matthias, (Editor), Patterson, Marc, (Editor), Rahman, Shamima, (Editor), Zschocke, Johannes, (Editor), Peters, Verena, (Editor)
Format: eBook
Language: English
Published: Berlin, Germany : Springer, 2017.
Series: JIMD reports ; v. 36.
Subjects:
Metabolism, Inborn errors of.
Metabolism > Disorders.
elektronické knihy
electronic books
ISBN: 9783662561386
9783662561379
Physical Description: 1 online resource (vi, 120 pages) : illustrations (some color)

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Table of contents

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245 0 0 |a JIMD reports.  |n Volume 36 /  |c Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor. 
264 1 |a Berlin, Germany :  |b Springer,  |c 2017. 
300 |a 1 online resource (vi, 120 pages) :  |b illustrations (some color) 
336 |a text  |b txt  |2 rdacontent 
337 |a počítač  |b c  |2 rdamedia 
338 |a online zdroj  |b cr  |2 rdacarrier 
490 1 |a JIMD reports,  |x 2192-8304 ;  |v volume 36 
505 0 |a 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 
505 8 |a Study Protocol for PatientsStudy 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 
505 8 |a Details of Ethics Approval/A Patient Consent StatementApproval 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 
505 8 |a Conflicts of InterestEthical 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 
505 8 |a Materials and MethodsProspective 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 
506 |a Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty 
520 |a 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. 
504 |a Includes bibliographical references at the end of each chapters. 
590 |a SpringerLink  |b Springer Complete eBooks 
650 0 |a Metabolism, Inborn errors of. 
650 0 |a Metabolism  |x Disorders. 
655 7 |a elektronické knihy  |7 fd186907  |2 czenas 
655 9 |a electronic books  |2 eczenas 
700 1 |a Morava, Eva,  |e editor. 
700 1 |a Baumgartner, Matthias,  |e editor. 
700 1 |a Patterson, Marc,  |e editor. 
700 1 |a Rahman, Shamima,  |e editor. 
700 1 |a Zschocke, Johannes,  |e editor. 
700 1 |a Peters, Verena,  |e editor. 
776 0 8 |i Print version:  |z 3662561379  |z 9783662561379  |w (OCoLC)1006443206 
830 0 |a JIMD reports ;  |v v. 36.  |x 2192-8304 
856 4 0 |u https://proxy.k.utb.cz/login?url=https://link.springer.com/10.1007/978-3-662-56138-6  |y Plný text 
992 |c NTK-SpringerBLS 
999 |c 97622  |d 97622 

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