000 | 03818nam a22006135i 4500 | ||
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001 | 978-3-662-49668-8 | ||
003 | DE-He213 | ||
005 | 20180206183012.0 | ||
007 | cr nn 008mamaa | ||
008 | 160401s2016 gw | s |||| 0|eng d | ||
020 |
_a9783662496688 _9978-3-662-49668-8 |
||
050 | 4 | _aRB155-155.8 | |
050 | 4 | _aQH431 | |
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072 | 7 |
_aMED107000 _2bisacsh |
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082 | 0 | 4 |
_a611.01816 _223 |
082 | 0 | 4 |
_a599.935 _223 |
245 | 1 | 0 |
_aJIMD Reports, Volume 25 _h[recurso electrónico] / _cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. |
250 | _a1st ed. 2016. | ||
264 | 1 |
_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2016. |
|
300 |
_aVI, 106 p. _bonline resource. |
||
336 |
_atext _btxt _2rdacontent |
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337 |
_acomputer _bc _2rdamedia |
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338 |
_aonline resource _bcr _2rdacarrier |
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347 |
_atext file _bPDF _2rda |
||
490 | 1 |
_aJIMD Reports, _x2192-8304 ; _v25 |
|
505 | 0 | _aCoenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III -- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion -- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria -- Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis -- The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease -- Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson?s Disease -- Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib -- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI -- The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings -- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation -- PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype? -- Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series -- GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings -- LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease. | |
520 | _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 | 0 | _aMedicine. | |
650 | 0 | _aHuman genetics. | |
650 | 0 | _aMolecular biology. | |
650 | 0 | _aMetabolic diseases. | |
650 | 0 | _aPediatrics. | |
650 | 1 | 4 | _aBiomedicine. |
650 | 2 | 4 | _aHuman Genetics. |
650 | 2 | 4 | _aMetabolic Diseases. |
650 | 2 | 4 | _aPediatrics. |
650 | 2 | 4 | _aMolecular Medicine. |
700 | 1 |
_aMorava, Eva. _eeditor. |
|
700 | 1 |
_aBaumgartner, Matthias. _eeditor. |
|
700 | 1 |
_aPatterson, Marc. _eeditor. |
|
700 | 1 |
_aRahman, Shamima. _eeditor. |
|
700 | 1 |
_aZschocke, Johannes. _eeditor. |
|
700 | 1 |
_aPeters, Verena. _eeditor. |
|
710 | 2 | _aSpringerLink (Online service) | |
773 | 0 | _tSpringer eBooks | |
776 | 0 | 8 |
_iPrinted edition: _z9783662496671 |
830 | 0 |
_aJIMD Reports, _x2192-8304 ; _v25 |
|
856 | 4 | 0 |
_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-49668-8 |
912 | _aZDB-2-SBL | ||
942 | _cLIBRO_ELEC | ||
999 |
_c226223 _d226223 |