000			04011nam a22006135i 4500
001			978-3-662-50409-3
003			DE-He213
005			20180206183126.0
007			cr nn 008mamaa
008			160505s2016 gw | s |||| 0|eng d
020			_a9783662504093 _9978-3-662-50409-3
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 _223
245	1	0	_aJIMD Reports, Volume 27 _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, 112 p. 28 illus., 14 illus. in color. _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 ; _v27
505	0		_aDetailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype.
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: _z9783662504086
830		0	_aJIMD Reports, _x2192-8304 ; _v27
856	4	0	_zLibro electrónico _uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-50409-3
912			_aZDB-2-SBL
942			_cLIBRO_ELEC
999			_c227641 _d227641