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008			180831s2018 gw | s |||| 0|eng d
020			_a9783662580813 _9
024	7		_a10.1007/978-3-662-58081-3 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
050		4	_aRC627.8 2018 EB
245	0	0	_aJIMD Reports _nVolume 41 _pFocus Issue : Adults and Metabolism _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
264		1	_aBerlin _bSpringer International Publishing _c2018
300			_a1 recurso en línea (VI, 129 páginas)
336			_aTexto _btxt _2rdacontent
347			_atext file _bPDF _2
490	0		_aJIMD Reports _x2192-8304 _v41
505	0		_aAssessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
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	_aEnfermedades hereditarias metabólicas _9156016 _2embne
700	1		_aMorava, Eva. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/4574149068536565730004 _988507
700	1		_aBaumgartner, Matthias R. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _1http://viaf.org/viaf/72135881 _930695
700	1		_aPatterson, Marc. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n84081570 _1http://viaf.org/viaf/70328454 _994072
700	1		_aRahman, Shamima. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _994073
700	1		_aZschocke, Johannes. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n00138248 _1http://viaf.org/viaf/70033460 _933188
700	1		_aPeters, Verena. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _0http://id.loc.gov/authorities/names/n2013044846 _1http://viaf.org/viaf/42626782 _988508
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
776	0	8	_iEdición impresa: _z9783662580806
776	0	8	_iEdición impresa: _z9783662580820
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-662-58081-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
490	0		_aBiomedical and Life Sciences (Springer-11642)
942			_2lcc
998			_aSI _a_alco _a_vill _b03/2019 _cm _dz _ea _feng _ggw _h0
999			_c100730 _d100730 _x1