000			03949cam a2200445Ii 4500
001			96340
003			ES-MaUEC
005			20230214040159.0
006			m o d
007			cr cnu|||unuuu
008			170717s2017 gw a ob 000 0 eng d
020			_a3662555867 _q(electronic bk.)
020			_a9783662555866 _q(electronic bk.)
020			_z3662555859
020			_z9783662555859 _q(print)
040			_aN$T _cN$T _dGW5XE _dYDX _dEBLCP _dN$T _dOCLCF _dNJR _dUAB _dAZU _dESU _dUPM _dCOO _dMERER _dOHI _dVT2 _dOCLCQ _dIOG _dES-MaUEC _bspa
050		4	_aRC627.8 _b2017 EB
245	0	0	_aJIMD Reports _nVolume 34 _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 _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 _v34
500			_aSpringerLink _bSpringer Biomedical and Life Sciences eBooks 2017 English+International
504			_aIncluye referencias bibliográficas
505	0		_aDiaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype -- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs -- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014 -- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations -- Phenotype and Genotype Expansion -- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review -- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen -- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients -- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion Reactions to Enzyme Replacement Therapies -- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder -- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria -- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables -- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis -- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.
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/10.1007/978-3-662-55586-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aEBOOK, asignarmaterias, EBSPRINGER_2017D
998			_b02/2018 _dz _e- _zSI
999			_c96340 _d96340 _x1