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JIMD Reports - Case and Research Reports, 2012/3

Overview of attention for book
Cover of 'JIMD Reports - Case and Research Reports, 2012/3'

Table of Contents

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    Book Overview
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    Chapter 94 A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency
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    Chapter 95 Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
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    Chapter 102 Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations
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    Chapter 116 D-Serine Influences Synaptogenesis in a P19 Cell Model
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    Chapter 117 Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
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    Chapter 118 Cardiac Pathology in Glycogen Storage Disease Type III.
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    Chapter 119 Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience
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    Chapter 120 Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis
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    Chapter 121 Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss
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    Chapter 122 The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy
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    Chapter 123 Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease
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    Chapter 124 Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands
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    Chapter 125 Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance
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    Chapter 126 Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells Provide Enzyme to Residual Enzyme-Deficient Recipient Cells
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    Chapter 127 Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection
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    Chapter 129 Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening
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    Chapter 130 Newborn Screening for Lysosomal Storage Disorders in Hungary
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    Chapter 131 Successful Weight Loss in Two Adult Patients Diagnosed with Late-Onset Long-Chain Fatty Acid Oxidation Defect
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    Chapter 137 Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides
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    Chapter 139 Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings
Attention for Chapter 121: Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss
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24 Mendeley
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Chapter title
Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss
Chapter number 121
Book title
JIMD Reports - Case and Research Reports, 2012/3
Published in
JIMD Reports, February 2012
DOI 10.1007/8904_2011_121
Pubmed ID
Book ISBNs
978-3-64-228128-0, 978-3-64-228129-7

Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink, Lisette Schoonhoven, Baziel van Engelen, Noorda, Greet, van Achterberg, Theo, van der Hooft, Truus, Smeitink, Jan, Schoonhoven, Lisette, van Engelen, Baziel


Objective: This study aimed to identify problems as experienced by adults with a mitochondrial disease. We chose to describe these problems from the patients' perspective as we thought this would give optimal input for care improvement. Design: A qualitative design using the grounded theory approach, involving single individual open interviews with 16 adults with a mitochondrial disease. Results: This study revealed "loss" as the main concept, where one loss often preceded other losses. Respondents mentioned loss of energy as the most basic loss in having a mitochondrial disease, leading to multiple varied losses in all areas of daily life. Looking back, they mentioned psychosocial-spiritual problems and dealing with actual and expected future losses as most prominent and difficult. In our study, we determined seven comprehensive themes: "loss of energy", "loss of independence and autonomy", "loss of social participation", "loss of personal identity", "loss of dreams and future" as well as "lack of health care" and "coping and adjustment". Conclusions: In this first study on this theme, we developed a theory about patient's losses related to mitochondrial disease. They experience a variety of problems in the physical, psychological, social and spiritual human domain. Patients experience a lack of health care and professional support as well. They use various strategies to manage their multiple losses and experience circumstances in which it is difficult to manage them effectively. The results can be used as a guide for improving health care, education and research and might result in an improved quality of life.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 13%
Lecturer 3 13%
Student > Ph. D. Student 3 13%
Researcher 2 8%
Other 1 4%
Other 4 17%
Unknown 8 33%
Readers by discipline Count As %
Nursing and Health Professions 3 13%
Medicine and Dentistry 2 8%
Biochemistry, Genetics and Molecular Biology 2 8%
Agricultural and Biological Sciences 2 8%
Business, Management and Accounting 1 4%
Other 5 21%
Unknown 9 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 November 2016.
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of 22,699,621 outputs
Outputs from JIMD Reports
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Outputs of similar age
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Outputs of similar age from JIMD Reports
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Altmetric has tracked 22,699,621 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 541 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 155,627 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 6 of them.