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JIMD Reports, Volume 28

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Cover of 'JIMD Reports, Volume 28'

Table of Contents

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    Book Overview
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    Chapter 443 The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
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    Chapter 492 Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.
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    Chapter 496 Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.
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    Chapter 499 Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
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    Chapter 501 Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.
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    Chapter 502 Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
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    Chapter 503 In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
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    Chapter 505 Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.
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    Chapter 506 Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
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    Chapter 511 JIMD Reports, Volume 28
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    Chapter 512 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
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    Chapter 514 Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.
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    Chapter 515 LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
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    Chapter 516 In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.
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    Chapter 518 Multiple, Successful Pregnancies in Pompe Disease.
Attention for Chapter 518: Multiple, Successful Pregnancies in Pompe Disease.
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Chapter title
Multiple, Successful Pregnancies in Pompe Disease.
Chapter number 518
Book title
JIMD Reports, Volume 28
Published in
JIMD Reports, November 2015
DOI 10.1007/8904_2015_518
Pubmed ID
Book ISBNs
978-3-66-252846-4, 978-3-66-252847-1
Authors

Plöckinger, Ursula, Tiling, Nikolaus, Bosanska, Lenka, Temmesfeld-Wollbrueck, Bettina, Irlbacher, Kerstin, Mezger, Viktor, Gossing, Gabriele, Ursula Plöckinger, Nikolaus Tiling, Lenka Bosanska, Bettina Temmesfeld-Wollbrueck, Kerstin Irlbacher, Viktor Mezger, Gabriele Gossing

Abstract

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

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

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 22%
Researcher 2 22%
Professor 1 11%
Lecturer 1 11%
Student > Master 1 11%
Other 1 11%
Unknown 1 11%
Readers by discipline Count As %
Medicine and Dentistry 3 33%
Agricultural and Biological Sciences 3 33%
Biochemistry, Genetics and Molecular Biology 1 11%
Linguistics 1 11%
Unknown 1 11%
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 18 November 2015.
All research outputs
#20,296,405
of 22,833,393 outputs
Outputs from JIMD Reports
#482
of 544 outputs
Outputs of similar age
#323,625
of 386,426 outputs
Outputs of similar age from JIMD Reports
#21
of 28 outputs
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So far Altmetric has tracked 544 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.
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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 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.