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001			95491
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006			m o d
007			cr cnu|||unuuu
008			170302s2017 gw a o 000 0 eng d
020			_a3662543842
020			_a3662543850 _q(electronic bk.)
020			_a9783662543849
020			_a9783662543856 _q(electronic bk.)
020			_z9783662543849 _q(print)
040			_aN$T _cN$T _dGW5XE _dN$T _dIDEBK _dEBLCP _dNJR _dYDX _dOCLCO _dOCLCF _dOCLCO _dCOO _dIOG _dOCLCO _dAZU _dUPM _dUAB _dMERER _dESU _dZ5A _dOCLCO _dOCLCQ _dOCLCO _dJBG _dIAD _dOCLCO _dICW _dOCLCO _dICN _dOCLCQ _dOCLCO _dOHI _dOTZ _dOCLCQ _dVT2 _dOCLCQ _dOCLCO _dOCLCQ _dOCLCO _dJG0 _dOCLCO _dU3W _dES-MaUEC _bspa
050		4	_aRC627.8 _bJ563 2017 EB
245	0	0	_aJIMD Reports _nVolume 32 _cEva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
264		1	_aBerlin, Germany _bSpringer _c2017.
300			_a1 recurso en línea (vi, 124 páginas) _bilustraciones (algunas a color)
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF _2rda
490	0		_aJIMD reports _x2192-8304
500			_aSpringerLink _bSpringer Biomedical and Life Sciences eBooks 2017 English+International
505	0		_aEstablishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch?Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
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.
650		7	_aMetabolismo _xDisorders. _2embne _0(OCoLC)fst01017476 _0 _9138638
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/10.1007/978-3-662-54385-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aEBOOK, asignarmaterias, EBSPRINGER_2017C
998			_b02/2018 _dz _e- _zSI
999			_c95491 _d95491 _x1