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JIMD Reports, Volume 19

Overview of attention for book
Cover of 'JIMD Reports, Volume 19'

Table of Contents

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    Book Overview
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    Chapter 349 A De Novo Variant in Galactose-1-P Uridylyltransferase ( GALT ) Leading to Classic Galactosemia
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    Chapter 355 Refsum Disease Presenting with a Late-Onset Leukodystrophy
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    Chapter 356 Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.
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    Chapter 359 Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease
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    Chapter 361 One Year Experience of Pheburane ® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency
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    Chapter 362 Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
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    Chapter 363 Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
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    Chapter 364 Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3 : Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis
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    Chapter 366 Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening
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    Chapter 370 Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study
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    Chapter 374 Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
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    Chapter 375 JIMD Reports, Volume 19
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    Chapter 376 Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome
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    Chapter 378 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.
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    Chapter 379 A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
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    Chapter 433 Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
Attention for Chapter 356: Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.
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  • High Attention Score compared to outputs of the same age and source (80th percentile)

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Chapter title
Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.
Chapter number 356
Book title
JIMD Reports, Volume 19
Published in
JIMD Reports, January 2015
DOI 10.1007/8904_2014_356
Pubmed ID
Book ISBNs
978-3-66-246189-1, 978-3-66-246190-7
Authors

Seemin S Ahmed, Guangping Gao, Seemin S. Ahmed

Abstract

Canavan's disease (CD) is a fatal autosomal recessive pediatric leukodystrophy in which patients show severe neurodegeneration and typically die by the age of 10, though life expectancy in patients can be highly variable. Currently, there is no effective treatment for CD; however, gene therapy seems to be a feasible approach to combat the disease. Being a monogenic defect, the disease provides an excellent model system to develop gene therapy approaches that can be extended to other monogenic leukodystrophies and neurodegenerative diseases. CD results from mutations in a single gene aspartoacylase which hydrolyses N-acetyl aspartic acid (NAA) which accumulates in its absences. Since CD is one of the few diseases that show high NAA levels, it can also be used to study the enigmatic biological role of NAA. The disease was first described in 1931, and this review traces the progress made in the past 8 decades to understand the disease by enumerating current hypotheses and ongoing palliative measures to alleviate patient symptoms in the context of the latest advances in the field.

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

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 7 44%
Unspecified 1 6%
Student > Ph. D. Student 1 6%
Researcher 1 6%
Unknown 6 38%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 19%
Agricultural and Biological Sciences 2 13%
Unspecified 1 6%
Immunology and Microbiology 1 6%
Medicine and Dentistry 1 6%
Other 2 13%
Unknown 6 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 24 May 2021.
All research outputs
#6,469,399
of 22,953,506 outputs
Outputs from JIMD Reports
#116
of 553 outputs
Outputs of similar age
#89,164
of 352,677 outputs
Outputs of similar age from JIMD Reports
#5
of 26 outputs
Altmetric has tracked 22,953,506 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 553 research outputs from this source. They receive a mean Attention Score of 2.9. This one has done well, scoring higher than 78% of its peers.
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 352,677 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.