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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
072 7 _aMFN
_2bicssc
072 7 _aMED107000
_2bisacsh
082 0 4 _a611.01816
_223
082 0 4 _a599.935
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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
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
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