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JIMD Reports, Volume 30

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Cover of 'JIMD Reports, Volume 30'

Table of Contents

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    Book Overview
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    Chapter 475 Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
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    Chapter 510 Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
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    Chapter 522 A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV
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    Chapter 523 The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
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    Chapter 524 Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency
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    Chapter 527 Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I
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    Chapter 530 Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome
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    Chapter 531 A New Approach for Fast Metabolic Diagnostics in CMAMMA
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    Chapter 532 Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor
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    Chapter 533 Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
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    Chapter 534 A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.
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    Chapter 536 Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
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    Chapter 538 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis
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    Chapter 539 Chronic Oral l -Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
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    Chapter 540 Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
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    Chapter 542 Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI
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JIMD Reports, Volume 30
Published by
Springer Berlin Heidelberg, November 2016
DOI 10.1007/978-3-662-53681-0
978-3-66-253680-3, 978-3-66-253681-0

Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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Geographical breakdown

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Student > Master 1 50%
Unknown 1 50%
Readers by discipline Count As %
Business, Management and Accounting 1 50%
Unknown 1 50%