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JIMD Reports, Volume 22

Overview of attention for book
Cover of 'JIMD Reports, Volume 22'

Table of Contents

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    Book Overview
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    Chapter 371 Innate and Adaptive Immune Response in Fabry Disease.
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    Chapter 405 Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
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    Chapter 406 Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias.
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    Chapter 407 Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide
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    Chapter 408 Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
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    Chapter 409 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
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    Chapter 410 Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l -DOPA, 5-HTP and BH4 Trials
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    Chapter 411 Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms
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    Chapter 413 Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
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    Chapter 414 Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy
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    Chapter 415 Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.
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    Chapter 416 Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
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    Chapter 417 Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures
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    Chapter 418 Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS)
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    Chapter 419 Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.
Attention for Chapter 413: Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
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Chapter title
Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Chapter number 413
Book title
JIMD Reports, Volume 22
Published in
JIMD Reports, March 2015
DOI 10.1007/8904_2015_413
Pubmed ID
25762494
Book ISBNs
978-3-66-247452-5, 978-3-66-247453-2
Authors

Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, Pierre Allard, Catherine Brunel-Guitton, Paola Diadori, Elsa Rossignol, Keith Hyland, Peter T Clayton, Philippa B Mills, Grant A Mitchell, Peter T. Clayton, Philippa B. Mills, Grant A. Mitchell, Levtova, Alina, Camuzeaux, Stephane, Laberge, Anne-Marie, Allard, Pierre, Brunel-Guitton, Catherine, Diadori, Paola, Rossignol, Elsa, Hyland, Keith, Clayton, Peter T., Mills, Philippa B., Mitchell, Grant A.

Abstract

Deficiency of pyridox(am)ine 5'-phosphate oxidase (PNPO, OMIM 610090) is a treatable autosomal recessive inborn error of metabolism. Neonatal epileptic encephalopathy and a low cerebrospinal fluid (CSF) pyridoxal 5'-phosphate level are the reported hallmarks of PNPO deficiency, but its clinical and biochemical spectra are not fully known.

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

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 24%
Other 2 12%
Student > Doctoral Student 2 12%
Student > Master 2 12%
Student > Bachelor 2 12%
Other 4 24%
Unknown 1 6%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 24%
Agricultural and Biological Sciences 4 24%
Medicine and Dentistry 4 24%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Psychology 1 6%
Other 3 18%
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 March 2015.
All research outputs
#15,350,522
of 22,833,393 outputs
Outputs from JIMD Reports
#347
of 544 outputs
Outputs of similar age
#153,814
of 259,024 outputs
Outputs of similar age from JIMD Reports
#10
of 15 outputs
Altmetric has tracked 22,833,393 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
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 27th percentile – i.e., 27% 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 259,024 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 15 others from the same source and published within six weeks on either side of this one. This one is in the 20th percentile – i.e., 20% of its contemporaries scored the same or lower than it.

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