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007			cr cnu|||unuuu
008			170119s2017 gw a o 000 0 eng d
020			_a3662541181
020			_a366254119X _q(electronic bk.)
020			_a9783662541180
020			_a9783662541197 _q(electronic bk.)
020			_z9783662541180 _q(print)
035			_a(OCoLC)969124989 _z(OCoLC)969422824 _z(OCoLC)972570474 _z(OCoLC)974651613 _z(OCoLC)981850228 _z(OCoLC)1005794359 _z(OCoLC)1011959673
040			_aGW5XE _cGW5XE _dEBLCP _dN$T _dIDEBK _dOCLCF _dUAB _dNJR _dYDX _dOCLCO _dCOO _dUPM _dIOG _dOCLCO _dMERER _dESU _dZ5A _dOCLCO _dOCLCQ _dOCLCO _dJBG _dIAD _dOCLCO _dICW _dOCLCO _dICN _dOCLCQ _dOCLCO _dOHI _dOCLCO _dOTZ _dOCLCQ _dVT2 _dOCLCO _dOCLCQ _dJG0 _dOCLCO _dU3W _dOCLCO _dOCLCA _dOCLCQ _dES-MaUEC _bspa
050		4	_aRC627.8 _bJ563 2017 EB
245	0	0	_aJIMD Reports _nVolume 31 _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, 111 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		_aLiving with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents -- Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency -- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders -- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders -- Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency -- Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots -- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency -- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels -- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients -- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency -- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? -- Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency -- Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter 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/10.1007/978-3-662-54119-7 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aEBOOK, asignarmaterias, EBSPRINGER_2017B
998			_b02/2018 _dz _e- _zSI
999			_c95232 _d95232 _x1