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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
Attention for Chapter 387: Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines
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Chapter title
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines
Chapter number 387
Book title
JIMD Reports, Volume 21
Published in
JIMD Reports, February 2015
DOI 10.1007/8904_2014_387
Pubmed ID
Book ISBNs
978-3-66-247171-5, 978-3-66-247172-2
Authors

Johannes Häberle, Martina Huemer, Häberle, Johannes, Huemer, Martina

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 25%
Student > Ph. D. Student 2 17%
Lecturer 1 8%
Student > Postgraduate 1 8%
Unknown 5 42%
Readers by discipline Count As %
Social Sciences 2 17%
Arts and Humanities 1 8%
Agricultural and Biological Sciences 1 8%
Nursing and Health Professions 1 8%
Unknown 7 58%