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020 _a3662561387
_q(electronic bk.)
020 _a9783662561386
_q(electronic bk.)
020 _z3662561379
020 _z9783662561379
_q(print)
040 _aGW5XE
_beng
_erda
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_cGW5XE
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_dOCLCF
_dVT2
_dAZU
_dUPM
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_dMERER
_dES-MaUEC
_bspa
050 4 _aRC627.8
_b2017 EB
084 _a.B38 2017 EB
245 0 0 _aJIMD Reports
_nVolume 36
_cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
264 1 _aBerlin, Germany
_bSpringer International Publishing
_c2017
300 _a1 recurso en línea (vi, 120 páginas)
_bilustraciones (algunas a color)
336 _aTexto
_btxt
_2rdacontent
337 _aelectrónico
_bc
_2rdamedia
338 _arecurso electrónico
_bcr
_2rdacarrier
347 _atext file
_bPDF
490 0 _aJIMD reports
_x2192-8304
_vvolume 36
500 _a
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""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""
505 8 _a""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""
505 8 _a""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""
505 8 _a""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""
506 _aAccess restricted to subscribing institutions.
520 3 _aJIMD 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.
588 0 _aOnline resource; title from PDF title page (SpringerLink, viewed November 17, 2017).
988 _aEBOOK, EBSPRINGER_2017
650 7 _aMetabolismo
_xTrastornos
_2embne
_9168790
700 1 _aBaumgartner, Matthias R.
_eeditor literario
_930695
700 1 _aMorava, Eva,
_eeditor literario
_988507
700 1 _aPatterson, Marc,
_eeditor literario
_994072
700 1 _aPeters, Verena,
_eeditor literario
_988508
700 1 _aRahman, Shamima,
_eeditor literario
_994073
700 1 _aZschocke, Johannes,
_eeditor literario
_933188
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-662-56138-6
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942 _2lcc
_cLE
998 _b02/2018
_dz
_e-
_zSI