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JIMD Reports, Volume 14

Overview of attention for book
Cover of 'JIMD Reports, Volume 14'

Table of Contents

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    Book Overview
  2. Altmetric Badge
    Chapter 276 Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene
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    Chapter 277 Danon Disease Due to a Novel LAMP2 Microduplication
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    Chapter 278 Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis
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    Chapter 279 Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study.
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    Chapter 280 Abnormalities in Glycogen Metabolism in a Patient with Alpers' Syndrome Presenting with Hypoglycemia.
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    Chapter 281 Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III
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    Chapter 282 Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome
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    Chapter 283 Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study
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    Chapter 284 The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH<sub>4</sub>) Responsiveness.
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    Chapter 285 Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor
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    Chapter 286 Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years’ Experience
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    Chapter 287 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
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    Chapter 288 Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis
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    Chapter 289 Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
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    Chapter 290 Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control
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    Chapter 314 Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N -Acetylaspartate
Attention for Chapter 314: Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N -Acetylaspartate
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#48 of 558)
  • High Attention Score compared to outputs of the same age (80th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

Mentioned by

news
1 news outlet

Readers on

mendeley
3 Mendeley
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Chapter title
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N -Acetylaspartate
Chapter number 314
Book title
JIMD Reports, Volume 14
Published in
JIMD Reports, June 2014
DOI 10.1007/8904_2014_314
Pubmed ID
Book ISBNs
978-3-66-243747-6, 978-3-66-243748-3
Authors

Marni J. Falk, Dong Li, Xiaowu Gai, Elizabeth McCormick, Emily Place, Francesco M. Lasorsa, Frederick G. Otieno, Cuiping Hou, Cecilia E. Kim, Nada Abdel-Magid, Lyam Vazquez, Frank D. Mentch, Rosetta Chiavacci, Jinlong Liang, Xuanzhu Liu, Hui Jiang, Giulia Giannuzzi, Eric D. Marsh, Yiran Guo, Lifeng Tian, Ferdinando Palmieri, Hakon Hakonarson, Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Guo, Yiran, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 1 33%
Researcher 1 33%
Student > Doctoral Student 1 33%
Readers by discipline Count As %
Veterinary Science and Veterinary Medicine 1 33%
Biochemistry, Genetics and Molecular Biology 1 33%
Unknown 1 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 March 2021.
All research outputs
#4,229,660
of 23,041,514 outputs
Outputs from JIMD Reports
#48
of 558 outputs
Outputs of similar age
#41,634
of 228,272 outputs
Outputs of similar age from JIMD Reports
#1
of 6 outputs
Altmetric has tracked 23,041,514 research outputs across all sources so far. Compared to these this one has done well and is in the 80th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 558 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done particularly well, scoring higher than 91% 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 228,272 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them