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020 _a9783662580813
_9978-3-662-58081-3
050 4 _aRB155-155.8
050 4 _aQH431
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_2bicssc
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_2bisacsh
072 7 _aMFN
_2thema
082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aJIMD Reports, Volume 41
_h[electronic resource] :
_bFocus Issue: Adults and Metabolism /
_cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250 _a1st ed. 2018.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2018.
300 _aVI, 129 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 ;
_v41
500 _aAcceso multiusuario
505 0 _aAssessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler-Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
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.
541 _fUABC ;
_cTemporal ;
_d01/01/2021-12/31/2023.
650 0 _aHuman genetics.
650 0 _aMetabolic diseases.
650 0 _aPediatrics.
650 0 _aMolecular biology.
650 1 4 _aHuman Genetics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B12008
650 2 4 _aMetabolic Diseases.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H33118
650 2 4 _aPediatrics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H49006
650 2 4 _aMolecular Medicine.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B1700X
700 1 _aMorava, Eva.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aBaumgartner, Matthias.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPatterson, Marc.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aRahman, Shamima.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aZschocke, Johannes.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPeters, Verena.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783662580806
776 0 8 _iPrinted edition:
_z9783662580820
830 0 _aJIMD Reports,
_x2192-8304 ;
_v41
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-58081-3
912 _aZDB-2-SBL
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