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JIMD Reports, Volume 36

Overview of attention for book
Cover of 'JIMD Reports, Volume 36'

Table of Contents

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    Book Overview
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    Chapter 1 Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
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    Chapter 2 An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom
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    Chapter 3 Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
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    Chapter 5 Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology
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    Chapter 12 Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
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    Chapter 30 Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
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    Chapter 32 Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS
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    Chapter 33 Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C
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    Chapter 34 False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
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    Chapter 35 Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach
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    Chapter 37 What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
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    Chapter 38 Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
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    Chapter 39 Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
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    Chapter 40 A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
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    Chapter 41 The Spectrum of Niemann-Pick Type C Disease in Greece
Attention for Chapter 3: Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
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Chapter title
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
Chapter number 3
Book title
JIMD Reports, Volume 36
Published in
JIMD Reports, January 2017
DOI 10.1007/8904_2017_3
Pubmed ID
28213850
Book ISBNs
978-3-66-256137-9, 978-3-66-256138-6
Authors

S. S. Johansen, X. Wang, D. Sejer Pedersen, P. L. Pearl, J.-B. Roullet, G. R. Ainslie, K. R. Vogel, K. M. Gibson, Johansen, S. S., Wang, X., Sejer Pedersen, D., Pearl, P. L., Roullet, J.-B., Ainslie, G. R., Vogel, K. R., Gibson, K. M.

Abstract

Gamma-hydroxybutyrate (GHB) is a drug of abuse, an approved therapeutic for narcolepsy, an agent employed for facilitation of sexual assault, as well as a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims of drug-related assault, we have opted to examine its level in SSADHD. We quantified GHB in hair derived from ten patients with SSADHD, and documented a significant negative age correlation. These findings are consistent with recent results in patient biological fluids, including plasma and red blood cells. These findings may provide additional insight into the developmental course of SSADHD (Jansen et al., J Inherit Metab Dis 39:795-800, 2016).

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

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 15%
Student > Doctoral Student 3 15%
Other 1 5%
Lecturer > Senior Lecturer 1 5%
Unspecified 1 5%
Other 4 20%
Unknown 7 35%
Readers by discipline Count As %
Nursing and Health Professions 4 20%
Chemistry 2 10%
Medicine and Dentistry 2 10%
Psychology 1 5%
Unspecified 1 5%
Other 2 10%
Unknown 8 40%
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 06 April 2024.
All research outputs
#17,489,487
of 25,654,806 outputs
Outputs from JIMD Reports
#143
of 266 outputs
Outputs of similar age
#269,642
of 423,398 outputs
Outputs of similar age from JIMD Reports
#12
of 27 outputs
Altmetric has tracked 25,654,806 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 266 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 33rd percentile – i.e., 33% 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 423,398 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.

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