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040			_aES-MaUEC _bspa _cES-MaUEC
336			_aTexto _btxt _2rdacontent
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _1http://viaf.org/viaf/148105729 _9106996
999			_c101001 _d101001 _x1
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005			20230214040200.0
008			180515s2018 gw | s |||| 0|eng d
020			_a9783662575772
024	7		_a10.1007/978-3-662-57577-2 _2doi
050		4	_aRC627.8 _b2018 EB
245	0	0	_aJIMD Reports _nVolume 39 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
264		1	_aBerlin _bSpringer Berlin Heidelberg _c2018
300			_a1 recurso en línea (VI, 116 páginas 20 ilustraciones,8 ilustraciones a color)
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aJIMD Reports _x2192-8304 _v39
490	0		_aBiomedical and Life Sciences (Springer-11642)
505	0		_aSuccessful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency -- Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases -- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients -- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency -- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms -- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis -- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals -- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? -- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers -- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] -- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up -- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment -- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB -- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
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
776	0	8	_iEdición impresa: _z9783662575765
776	0	8	_iEdición impresa: _z9783662575789
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-662-57577-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _b03/2019 _cm _dz _ea _feng _ggw _h0