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JIMD Reports, Volume 26

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Cover of 'JIMD Reports, Volume 26'

Table of Contents

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    Book Overview
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    Chapter 449 Causes of Death in Adults with Mitochondrial Disease
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    Chapter 455 TMEM165 Deficiency: Postnatal Changes in Glycosylation
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    Chapter 470 Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)
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    Chapter 471 News on Clinical Details and Treatment in PGM1-CDG
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    Chapter 473 Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease
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    Chapter 474 Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
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    Chapter 477 Friedreich Ataxia in Classical Galactosaemia
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    Chapter 478 Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
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    Chapter 479 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
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    Chapter 482 Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review
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    Chapter 484 Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.
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    Chapter 485 Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity
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    Chapter 487 Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
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    Chapter 488 Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I
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    Chapter 500 Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)
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Title
JIMD Reports, Volume 26
Published by
Springer Berlin Heidelberg, April 2016
DOI 10.1007/978-3-662-49833-0
ISBNs
978-3-66-249832-3, 978-3-66-249833-0
Editors

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

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