000 04030nam a22006135i 4500
001 978-3-662-53681-0
003 DE-He213
005 20180206183137.0
007 cr nn 008mamaa
008 161103s2016 gw | s |||| 0|eng d
020 _a9783662536810
_9978-3-662-53681-0
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 30
_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, 108 p. 20 illus., 13 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 ;
_v30
505 0 _aMultidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux?Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel ?-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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:
_z9783662536803
830 0 _aJIMD Reports,
_x2192-8304 ;
_v30
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=http://dx.doi.org/10.1007/978-3-662-53681-0
912 _aZDB-2-SBL
942 _cLIBRO_ELEC
999 _c227857
_d227857