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JIMD Reports, Volume 15

Overview of attention for book
Cover of 'JIMD Reports, Volume 15'

Table of Contents

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    Book Overview
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    Chapter 291 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3
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    Chapter 292 Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood
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    Chapter 293 Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
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    Chapter 294 Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
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    Chapter 295 Report of Two Never Treated Adult Sisters with Aromatic l -Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?
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    Chapter 296 Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
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    Chapter 298 Mortality in Patients with Morquio Syndrome A
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    Chapter 299 Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease.
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    Chapter 300 Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
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    Chapter 302 Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
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    Chapter 303 Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations
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    Chapter 304 Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme(®)) to Agalsidase Alfa (Replagal (®)).
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    Chapter 305 Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy
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    Chapter 306 Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood
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    Chapter 308 Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
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    Chapter 369 Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
Attention for Chapter 293: Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
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Chapter title
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
Chapter number 293
Book title
JIMD Reports, Volume 15
Published in
JIMD Reports, April 2014
DOI 10.1007/8904_2014_293
Pubmed ID
Book ISBNs
978-3-66-243750-6, 978-3-66-243751-3
Authors

van Dongen S, Brown RM, Brown GK, Thorburn DR, Boneh A, van Dongen, Sanne, Brown, Ruth M., Brown, Garry K., Thorburn, David R., Boneh, Avihu, Sanne van Dongen, Ruth M. Brown, Garry K. Brown, David R. Thorburn, Avihu Boneh

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

Geographical breakdown

Country Count As %
Poland 1 4%
Unknown 26 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 15%
Other 3 11%
Student > Bachelor 3 11%
Student > Ph. D. Student 3 11%
Researcher 2 7%
Other 6 22%
Unknown 6 22%
Readers by discipline Count As %
Medicine and Dentistry 9 33%
Biochemistry, Genetics and Molecular Biology 3 11%
Agricultural and Biological Sciences 3 11%
Neuroscience 2 7%
Unspecified 2 7%
Other 0 0%
Unknown 8 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 13 September 2021.
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#18,827,700
of 23,332,901 outputs
Outputs from JIMD Reports
#458
of 562 outputs
Outputs of similar age
#166,955
of 229,436 outputs
Outputs of similar age from JIMD Reports
#7
of 7 outputs
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So far Altmetric has tracked 562 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 10th percentile – i.e., 10% of its peers scored the same or lower than it.
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