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" JIMD reports. "
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor
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BL
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| Record Number
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606044
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| Doc. No
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b435263
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| Title & Author
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JIMD reports.\ Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor
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1 online resource
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| ISBN
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9783662536810
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: 3662536811
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9783662536803
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| Contents
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Multidisciplinary 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
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| Subject
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Metabolism, Inborn errors of
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Metabolism-- Disorders
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| Dewey Classification
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616.3/9042
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610
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| LC Classification
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RC627.8
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Morava, Eva
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Baumgartner, Matthias R.
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Patterson, Marc
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Rahman, Shamima
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Zschocke, Johannes
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Peters, Verena
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Ohio Library and Information Network
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