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JIMD Reports, Volume 25

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JIMD Reports, Volume 25
Springer Berlin Heidelberg

Table of Contents

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    Book Overview
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    Chapter 421 Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
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    Chapter 454 The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
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    Chapter 456 PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?
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    Chapter 457 The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
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    Chapter 458 Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
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    Chapter 459 Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.
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    Chapter 461 Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
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    Chapter 462 New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria
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    Chapter 465 Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI
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    Chapter 466 Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson’s Disease
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    Chapter 467 Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
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    Chapter 469 GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings
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    Chapter 472 Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
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    Chapter 480 Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia
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    Chapter 483 Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease
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Title
JIMD Reports, Volume 25
Published by
Springer Berlin Heidelberg, April 2016
DOI 10.1007/978-3-662-49668-8
ISBNs
978-3-66-249667-1, 978-3-66-249668-8
Editors

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

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