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JIMD Reports – Case and Research Reports, 2012/6

Overview of attention for book
Cover of 'JIMD Reports – Case and Research Reports, 2012/6'

Table of Contents

  1. Altmetric Badge
    Book Overview
  2. Altmetric Badge
    Chapter 173 Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
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    Chapter 174 Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
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    Chapter 175 Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation
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    Chapter 176 Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)).
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    Chapter 177 Effects of switching from agalsidase Beta to agalsidase alfa in 10 patients with anderson-fabry disease.
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    Chapter 178 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S
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    Chapter 179 Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients
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    Chapter 180 Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up
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    Chapter 181 Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 : C48R: A Novel Mutation in AGPAT2.
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    Chapter 183 The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
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    Chapter 184 Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene
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    Chapter 185 A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine
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    Chapter 186 Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation
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    Chapter 187 Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA Ser(UCN) and Review of Published Cases
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    Chapter 188 Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy
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    Chapter 189 Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process
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    Chapter 190 Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)
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    Chapter 191 JIMD Reports - Case and Research Reports, 2012/6
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    Chapter 192 CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy
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    Chapter 194 Partial Pyridoxine Responsiveness in PNPO Deficiency
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    Chapter 195 Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA Ser(UCN) and Review of Published Cases
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    Chapter 196 Erratum to: Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
Attention for Chapter 173: Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
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About this Attention Score

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Mentioned by

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1 Wikipedia page

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18 Mendeley
Summary Wikipedia
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Chapter title
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
Chapter number 173
Book title
JIMD Reports – Case and Research Reports, 2012/6
Published in
JIMD Reports, August 2012
DOI 10.1007/8904_2012_173
Pubmed ID
23430542
Book ISBNs
978-3-64-235517-2, 978-3-64-235518-9
Authors

Elsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, H. Serap Kalkanoglu-Sivri, Ali Dursun, Didem Aliefendioglu, Helle Leth, Marianne Dahl, Ernst Christensen, Flemming Wibrand, Ostergaard, Elsebet, Duno, Morten, Møller, Lisbeth Birk, Kalkanoglu-Sivri, H. Serap, Dursun, Ali, Aliefendioglu, Didem, Leth, Helle, Dahl, Marianne, Christensen, Ernst, Wibrand, Flemming

View on publisher site
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 28%
Student > Master 2 11%
Researcher 2 11%
Other 1 6%
Student > Bachelor 1 6%
Other 4 22%
Unknown 3 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 33%
Biochemistry, Genetics and Molecular Biology 4 22%
Medicine and Dentistry 3 17%
Sports and Recreations 1 6%
Unspecified 1 6%
Other 0 0%
Unknown 3 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 February 2019.
All research outputs
#7,554,540
of 23,045,021 outputs
Outputs from JIMD Reports
#152
of 558 outputs
Outputs of similar age
#56,512
of 170,358 outputs
Outputs of similar age from JIMD Reports
#1
of 3 outputs
Altmetric has tracked 23,045,021 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 558 research outputs from this source. They receive a mean Attention Score of 2.8. This one has gotten more attention than average, scoring higher than 68% of its peers.
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 170,358 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them

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