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JIMD Reports, Volume 44

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Cover of 'JIMD Reports, Volume 44'

Table of Contents

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    Book Overview
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    Chapter 114 The Second Case of Saposin A Deficiency and Altered Autophagy
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    Chapter 115 A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
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    Chapter 116 Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
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    Chapter 117 Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
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    Chapter 118 Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
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    Chapter 119 Psychosocial Functioning in Parents of MPS III Patients
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    Chapter 121 An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
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    Chapter 125 Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
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    Chapter 126 Cobalamin D Deficiency Identified Through Newborn Screening
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    Chapter 127 Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
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    Chapter 128 DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients
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    Chapter 129 Enzyme Replacement Therapy During Pregnancy in Fabry Patients
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    Chapter 132 Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
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    Chapter 133 Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
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    Chapter 135 Reversible Cerebral White Matter Abnormalities in Homocystinuria
Attention for Chapter 119: Psychosocial Functioning in Parents of MPS III Patients
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Chapter title
Psychosocial Functioning in Parents of MPS III Patients
Chapter number 119
Book title
JIMD Reports, Volume 44
Published in
2019, January 2018
DOI 10.1007/8904_2018_119
Pubmed ID
Book ISBNs
978-3-66-258616-7, 978-3-66-258617-4
Authors

Thirsa Conijn, Stephanie C. M. Nijmeijer, Hedy A. van Oers, Frits A. Wijburg, Lotte Haverman, Conijn, Thirsa, Nijmeijer, Stephanie C. M., van Oers, Hedy A., Wijburg, Frits A., Haverman, Lotte

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 15%
Student > Ph. D. Student 2 10%
Researcher 2 10%
Student > Doctoral Student 2 10%
Unspecified 1 5%
Other 0 0%
Unknown 10 50%
Readers by discipline Count As %
Psychology 4 20%
Medicine and Dentistry 3 15%
Nursing and Health Professions 2 10%
Chemistry 1 5%
Unspecified 1 5%
Other 0 0%
Unknown 9 45%