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JIMD Reports, Volume 42

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Cover of 'JIMD Reports, Volume 42'

Table of Contents

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    Book Overview
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    Chapter 64 Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
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    Chapter 67 A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
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    Chapter 70 Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
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    Chapter 71 EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
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    Chapter 73 Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair
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    Chapter 75 The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria
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    Chapter 77 Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops
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    Chapter 78 Mitochondrial Disease in Children: The Nephrologist’s Perspective
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    Chapter 79 Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis
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    Chapter 83 Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients
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    Chapter 85 Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
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    Chapter 86 Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
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    Chapter 87 Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis
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    Chapter 88 Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
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    Chapter 89 Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
Attention for Chapter 89: Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
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14 Mendeley
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Chapter title
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
Chapter number 89
Book title
JIMD Reports, Volume 42
Published by
Springer, Berlin, Heidelberg, January 2018
DOI 10.1007/8904_2018_89
Pubmed ID
Book ISBNs
978-3-66-258364-7, 978-3-66-258365-4
Authors

Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão, Pereira, Sandra, Adrião, Mariana, Sampaio, Mafalda, Basto, Margarida Ayres, Rodrigues, Esmeralda, Vilarinho, Laura, Teles, Elisa Leão, Alonso, Isabel, Leão, Miguel

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 21%
Student > Ph. D. Student 2 14%
Other 1 7%
Student > Bachelor 1 7%
Lecturer 1 7%
Other 2 14%
Unknown 4 29%
Readers by discipline Count As %
Medicine and Dentistry 4 29%
Nursing and Health Professions 2 14%
Biochemistry, Genetics and Molecular Biology 2 14%
Agricultural and Biological Sciences 1 7%
Neuroscience 1 7%
Other 0 0%
Unknown 4 29%