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001			95941
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005			20230214040159.0
006			m o d
007			cr cnu|||unuuu
008			170505s2017 gw a o 000 0 eng d
020			_a3662550113
020			_a3662550121 _q(electronic bk.)
020			_a9783662550113
020			_a9783662550120 _q(electronic bk.)
020			_z9783662550113 _q(print)
040			_aN$T _cN$T _dGW5XE _dEBLCP _dN$T _dYDX _dOCLCF _dUAB _dESU _dAZU _dUPM _dIOG _dCOO _dMERER _dVT2 _dOCLCQ _dJG0 _dU3W _dES-MaUEC _bspa
050		4	_aRC627.8 _bJ563 2017 EB
245	0	0	_aJIMD Reports _nVolume 33 _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, 110 páginas) _bilustraciones (algunas a color)
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
490	0		_aJIMD reports _vvolume 33
500			_aSpringerLink _bSpringer Biomedical and Life Sciences eBooks 2017 English+International
505	0		_aDifficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease -- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II -- Gastrointestinal Health in Classic Galactosemia -- Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses -- Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria -- The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency -- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features -- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling -- Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases -- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) -- Erratum to: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Erratum to: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
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/10.1007/978-3-662-55012-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aEBOOK, asignarmaterias, EBSPRINGER_2017D
998			_b02/2018 _dz _e- _zSI
999			_c95941 _d95941 _x1