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JIMD Reports - Case and Research Reports, 2011/3

Overview of attention for book
Cover of 'JIMD Reports - Case and Research Reports, 2011/3'

Table of Contents

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    Book Overview
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    Chapter 31 JIMD Reports - Case and Research Reports, 2011/3
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    Chapter 33 Large Mitochondrial DNA Deletion in an Infant with Addison Disease
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    Chapter 35 Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark
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    Chapter 36 Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
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    Chapter 43 Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
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    Chapter 44 Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience
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    Chapter 47 Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann–Pick Type C
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    Chapter 48 A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease
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    Chapter 58 Differential Expression of Matrix Metalloproteinases in the Serum of Patients with Mucopolysaccharidoses
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    Chapter 61 COG5-CDG with a Mild Neurohepatic Presentation
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    Chapter 62 Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations
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    Chapter 65 Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy
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    Chapter 66 Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation
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    Chapter 67 Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.
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    Chapter 69 JIMD Reports - Case and Research Reports, 2011/3
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    Chapter 70 Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease
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    Chapter 71 Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications
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    Chapter 72 Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1
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    Chapter 76 Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome
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    Chapter 80 Molecular Genetic Characterization of Novel Sphingomyelin Phosphodiesterase 1 Mutations Causing Niemann–Pick Disease
Attention for Chapter 48: A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease
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  • Good Attention Score compared to outputs of the same age and source (66th percentile)

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Chapter title
A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease
Chapter number 48
Book title
JIMD Reports - Case and Research Reports, 2011/3
Published in
JIMD Reports, September 2011
DOI 10.1007/8904_2011_48
Pubmed ID
Book ISBNs
978-3-64-224935-8, 978-3-64-224936-5
Authors

Maciej Machaczka, Martin Paucar Arce, Malgorzata Rucinska, Takashi Yoshitake, Jan Kehr, Wojciech Jurczak, Aleksander B. Skotnicki, Jan-Erik Månsson, Anna Tylki-Szymanska, Per Svenningsson, Machaczka, Maciej, Arce, Martin Paucar, Rucinska, Malgorzata, Yoshitake, Takashi, Kehr, Jan, Jurczak, Wojciech, Skotnicki, Aleksander B., Månsson, Jan-Erik, Tylki-Szymanska, Anna, Svenningsson, Per

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 X users 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 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 4 22%
Student > Postgraduate 4 22%
Student > Bachelor 3 17%
Student > Doctoral Student 2 11%
Student > Master 1 6%
Other 0 0%
Unknown 4 22%
Readers by discipline Count As %
Medicine and Dentistry 9 50%
Arts and Humanities 1 6%
Psychology 1 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Social Sciences 1 6%
Other 1 6%
Unknown 4 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 05 April 2020.
All research outputs
#14,912,877
of 24,149,630 outputs
Outputs from JIMD Reports
#274
of 574 outputs
Outputs of similar age
#88,425
of 133,590 outputs
Outputs of similar age from JIMD Reports
#4
of 9 outputs
Altmetric has tracked 24,149,630 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 574 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 47th percentile – i.e., 47% 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 133,590 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 9 others from the same source and published within six weeks on either side of this one. This one has scored higher than 5 of them.