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040			_aES-MaUEC _bspa _cES-MaUEC
336			_aTexto _btxt _2rdacontent
988			_aSpringerBiomedLife_2019
999			_c109217 _d109217 _x1
001			109217
005			20230214040201.0
008			190117s2019 gw | o |||| 0|eng d
020			_a9783662586471
024	7		_a10.1007/978-3-662-58647-1 _2doi
050		4	_aRC627.8 _b2019 EB
245	0	0	_aJIMD Reports _nVolume 45 _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
264		1	_aBerlin _bSpringer International Publishing _c2019
300			_a1 recurso en línea (VI, 110 páginas) _b28 ilustraciones, 13 ilustraciones a color
337			_aelectrónico _bc
338			_arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aBiomedical and Life Sciences (Springer-11642)
490	0		_aJIMD Reports _x2192-8304 _v45
505	0		_aI-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease -- Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency -- Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases -- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy -- The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism -- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV -- Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy -- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 -- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency -- Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series -- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency -- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation -- Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant -- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? -- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 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	_2embne _9156016 _aEnfermedades hereditarias metabólicas
650		7	_2embne _aMetabolismo _xTrastornos _9168790
700	1		_aBaumgartner, Matthias R. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _930695
700	1		_aMorava, Eva. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _988507
700	1		_aPatterson, Marc. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _994072
700	1		_aPeters, Verena. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _988508
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 _933188
776	0	8	_iPrinted edition: _z9783662586464
776	0	8	_iPrinted edition: _z9783662586488
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi-org/10.1007/978-3-662-58647-1 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _cm _dz _feng _ggw _h0 _b07/2019 _ek