↓ Skip to main content

JIMD Reports, Volume 19

Overview of attention for book
Cover of 'JIMD Reports, Volume 19'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 349 A De Novo Variant in Galactose-1-P Uridylyltransferase ( GALT ) Leading to Classic Galactosemia
  3. Altmetric Badge
    Chapter 355 Refsum Disease Presenting with a Late-Onset Leukodystrophy
  4. Altmetric Badge
    Chapter 356 Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.
  5. Altmetric Badge
    Chapter 359 Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease
  6. Altmetric Badge
    Chapter 361 One Year Experience of Pheburane ® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency
  7. Altmetric Badge
    Chapter 362 Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
  8. Altmetric Badge
    Chapter 363 Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
  9. Altmetric Badge
    Chapter 364 Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3 : Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis
  10. Altmetric Badge
    Chapter 366 Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening
  11. Altmetric Badge
    Chapter 370 Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study
  12. Altmetric Badge
    Chapter 374 Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.
  13. Altmetric Badge
    Chapter 375 JIMD Reports, Volume 19
  14. Altmetric Badge
    Chapter 376 Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome
  15. Altmetric Badge
    Chapter 378 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.
  16. Altmetric Badge
    Chapter 379 A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
  17. Altmetric Badge
    Chapter 433 Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
Attention for Chapter 379: A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Altmetric Badge

About this Attention Score

  • Average Attention Score compared to outputs of the same age

Mentioned by

twitter
1 X user

Readers on

mendeley
10 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Chapter title
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Chapter number 379
Book title
JIMD Reports, Volume 19
Published in
JIMD Reports, February 2015
DOI 10.1007/8904_2014_379
Pubmed ID
Book ISBNs
978-3-66-246189-1, 978-3-66-246190-7
Authors

Jun Hwa Lee, André B P van Kuilenburg, N G G M Abeling, Valeria Vasta, Si Houn Hahn, André B. P. van Kuilenburg, N. G. G. M. Abeling, Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn

Abstract

β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures, microcephaly, and intellectual disabilities. However, 11 of them were asymptomatic cases (Nakajima et al., J Inherit Metab Dis 37(5):801-812, 2014). We report on a 9-year-old female presenting with intractable epilepsy, microcephaly, and global developmental delay. She was homozygous for p.R326Q (c.977G>A) and heterozygous for p.G31S (c.91G>A) in the UPB1 gene, detected by targeted next-generation sequencing test and subsequently confirmed by biochemical analysis of urine, plasma, and cerebrospinal fluid (CSF) using reversed-phase HPLC, combined with electrospray tandem mass spectrometry. We report a first Korean female case with β-ureidopropionase deficiency.

X Demographics

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

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 40%
Researcher 3 30%
Professor 2 20%
Other 1 10%
Readers by discipline Count As %
Medicine and Dentistry 5 50%
Biochemistry, Genetics and Molecular Biology 2 20%
Agricultural and Biological Sciences 2 20%
Psychology 1 10%
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 02 February 2015.
All research outputs
#15,443,875
of 22,953,506 outputs
Outputs from JIMD Reports
#355
of 553 outputs
Outputs of similar age
#211,057
of 353,459 outputs
Outputs of similar age from JIMD Reports
#21
of 28 outputs
Altmetric has tracked 22,953,506 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 553 research outputs from this source. They receive a mean Attention Score of 2.9. 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 353,459 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.