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JIMD Reports - Case and Research Reports, 2012/4

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Cover of 'JIMD Reports - Case and Research Reports, 2012/4'

Table of Contents

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    Book Overview
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    Chapter 128 Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
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    Chapter 132 Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?
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    Chapter 133 Hereditary Intrinsic Factor Deficiency in Chaldeans
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    Chapter 134 JIMD Reports - Case and Research Reports, 2012/4
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    Chapter 135 Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
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    Chapter 136 Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease
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    Chapter 138 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
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    Chapter 140 Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
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    Chapter 141 The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I
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    Chapter 142 Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
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    Chapter 143 Autism Spectrum Disorder in a Child with Propionic Acidemia
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    Chapter 144 Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease
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    Chapter 145 β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype
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    Chapter 146 In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography
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    Chapter 153 A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)
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    Chapter 154 Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
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    Chapter 156 High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase
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    Chapter 157 Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU
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    Chapter 158 Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
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    Chapter 166 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase ( OPLAH) Missense Changes
Attention for Chapter 138: Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
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Chapter title
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
Chapter number 138
Book title
JIMD Reports - Case and Research Reports, 2012/4
Published in
JIMD Reports, April 2012
DOI 10.1007/8904_2012_138
Pubmed ID
Book ISBNs
978-3-64-232441-3, 978-3-64-232442-0
Authors

Mónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, Marian A. Kroos, Sandra Yaneth Ospina, Juan Fernando Mejía, Jesús Alfredo Uribe, Arnold J. J. Reuser, Paul Laissue, Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Unknown 40 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 7 17%
Student > Master 5 12%
Other 5 12%
Student > Ph. D. Student 5 12%
Researcher 4 10%
Other 6 15%
Unknown 9 22%
Readers by discipline Count As %
Medicine and Dentistry 12 29%
Biochemistry, Genetics and Molecular Biology 9 22%
Agricultural and Biological Sciences 6 15%
Pharmacology, Toxicology and Pharmaceutical Science 2 5%
Linguistics 2 5%
Other 2 5%
Unknown 8 20%
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 25 August 2018.
All research outputs
#20,480,611
of 23,041,514 outputs
Outputs from JIMD Reports
#498
of 558 outputs
Outputs of similar age
#147,579
of 162,702 outputs
Outputs of similar age from JIMD Reports
#7
of 8 outputs
Altmetric has tracked 23,041,514 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% 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 is in the 1st percentile – i.e., 1% 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 162,702 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one.