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JIMD Reports, Volume 21

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Cover of 'JIMD Reports, Volume 21'

Table of Contents

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    Book Overview
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    Chapter 330 Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.
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    Chapter 347 Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
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    Chapter 365 Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.
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    Chapter 373 Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk
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    Chapter 377 Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
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    Chapter 384 A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy
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    Chapter 387 Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines
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    Chapter 389 Autophagy in Natural History and After ERT in Glycogenosis Type II
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    Chapter 393 Is l -Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?
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    Chapter 394 Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar.
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    Chapter 399 Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria
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    Chapter 401 Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report
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    Chapter 402 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?
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    Chapter 404 Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding
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    Chapter 441 Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations
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    Chapter 448 Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
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Title
JIMD Reports, Volume 21
Published by
Springer Berlin Heidelberg, June 2015
DOI 10.1007/978-3-662-47172-2
ISBNs
978-3-66-247171-5, 978-3-66-247172-2
Editors

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

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