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040			_aES-MaUEC _bspa _cES-MaUEC
988			_aSpringerBiomedLife_2019
999			_c109205 _d109205 _x1
001			109205
005			20230214040201.0
008			190107s2019 gw | o |||| 0|eng d
020			_a9783662586143
024	7		_a10.1007/978-3-662-58614-3 _2doi
050		4	_aQH431 _b2019 EB
245	0	0	_aJIMD Reports _nVolume 43 _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, 124 páginas) _b35 ilustraciones, 20 ilustraciones a color
336			_2rdacontent _aTexto (visual) _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aBiomedical and Life Sciences (Springer-11642)
490	0		_aJIMD Reports _x2192-8304 _v43
505	0		_aNormal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study -- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency -- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation -- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice -- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period -- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations -- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion -- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain -- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency -- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants -- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). .
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 _aGenética humana _9140562
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: _z9783662586136
776	0	8	_iPrinted edition: _z9783662586150
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi-org/10.1007/978-3-662-58614-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_aSI _dz _b07/2019 _ek _zSI