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JIMD Reports, Volume 27

Overview of attention for book
Cover of 'JIMD Reports, Volume 27'

Table of Contents

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    Book Overview
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    Chapter 435 The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.
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    Chapter 460 Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
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    Chapter 463 Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
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    Chapter 464 SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
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    Chapter 468 No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction
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    Chapter 476 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency
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    Chapter 481 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
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    Chapter 486 Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency
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    Chapter 489 Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)
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    Chapter 490 IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia
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    Chapter 491 Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.
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    Chapter 494 Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders
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    Chapter 497 Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
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    Chapter 498 Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.
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    Chapter 504 Further Delineation of the ALG9-CDG Phenotype.
Attention for Chapter 504: Further Delineation of the ALG9-CDG Phenotype.
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Chapter title
Further Delineation of the ALG9-CDG Phenotype.
Chapter number 504
Book title
JIMD Reports, Volume 27
Published in
JIMD Reports, October 2015
DOI 10.1007/8904_2015_504
Pubmed ID
26453364
Book ISBNs
978-3-66-250408-6, 978-3-66-250409-3
Authors

AlSubhi, Sarah, AlHashem, Amal, AlAzami, Anas, Tlili, Kalthoum, AlShahwan, Saad, Lefeber, Dirk, Alkuraya, Fowzan S, Tabarki, Brahim, Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan, Dirk Lefeber, Fowzan S. Alkuraya, Brahim Tabarki

Abstract

ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis. A brain MRI revealed global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.

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

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 18%
Student > Master 2 18%
Student > Ph. D. Student 1 9%
Unspecified 1 9%
Researcher 1 9%
Other 1 9%
Unknown 3 27%
Readers by discipline Count As %
Pharmacology, Toxicology and Pharmaceutical Science 2 18%
Agricultural and Biological Sciences 2 18%
Unspecified 1 9%
Medicine and Dentistry 1 9%
Neuroscience 1 9%
Other 1 9%
Unknown 3 27%
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 11 October 2015.
All research outputs
#20,293,238
of 22,829,683 outputs
Outputs from JIMD Reports
#482
of 544 outputs
Outputs of similar age
#233,714
of 278,588 outputs
Outputs of similar age from JIMD Reports
#13
of 21 outputs
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So far Altmetric has tracked 544 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.

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