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JIMD Reports, Volume 40

Overview of attention for book
Cover of 'JIMD Reports, Volume 40'

Table of Contents

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    Book Overview
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    Chapter 53 ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation
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    Chapter 54 Natural History of Aromatic l -Amino Acid Decarboxylase Deficiency in Taiwan
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    Chapter 55 Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.
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    Chapter 56 Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion
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    Chapter 57 Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers
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    Chapter 58 Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
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    Chapter 59 Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
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    Chapter 60 The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria
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    Chapter 61 Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening
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    Chapter 62 Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria
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    Chapter 63 Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria
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    Chapter 65 Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
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    Chapter 66 Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood
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    Chapter 68 Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation
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    Chapter 69 Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC
Attention for Chapter 65: Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
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Chapter title
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
Chapter number 65
Book title
JIMD Reports, Volume 40
Published in
JIMD Reports, January 2017
DOI 10.1007/8904_2017_65
Pubmed ID
29052812
Book ISBNs
978-3-66-257879-7, 978-3-66-257880-3
Authors

B. Ryder, F. Moore, A. Mitchell, S. Thompson, J. Christodoulou, S. Balasubramaniam, Ryder, B., Moore, F., Mitchell, A., Thompson, S., Christodoulou, J., Balasubramaniam, S.

Abstract

Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC). There is currently no recommended disease modifying treatment for FHD and only isolated reports of unsuccessful dietary modifications. Herein, we describe the safe and possibly disease modifying effect of a high fat, low carbohydrate diet in a 14-year-old female with severe FHD.

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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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 7 21%
Student > Master 4 12%
Researcher 3 9%
Student > Ph. D. Student 2 6%
Other 2 6%
Other 3 9%
Unknown 12 36%
Readers by discipline Count As %
Medicine and Dentistry 6 18%
Biochemistry, Genetics and Molecular Biology 5 15%
Neuroscience 3 9%
Agricultural and Biological Sciences 2 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 2 6%
Unknown 14 42%
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 01 October 2022.
All research outputs
#15,831,621
of 24,124,781 outputs
Outputs from JIMD Reports
#339
of 572 outputs
Outputs of similar age
#251,215
of 428,250 outputs
Outputs of similar age from JIMD Reports
#11
of 25 outputs
Altmetric has tracked 24,124,781 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 572 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 34th percentile – i.e., 34% 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 428,250 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.

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