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JIMD Reports - Case and Research Reports, 2011/2

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Cover of 'JIMD Reports - Case and Research Reports, 2011/2'

Table of Contents

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    Book Overview
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    Chapter 30 Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
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    Chapter 32 Cardiac Arrest in Kearns–Sayre Syndrome
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    Chapter 34 Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report
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    Chapter 37 Carpal Tunnel Syndrome in Fabry Disease
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    Chapter 38 A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
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    Chapter 39 Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?
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    Chapter 40 Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome
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    Chapter 42 Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
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    Chapter 45 Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia
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    Chapter 46 The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder
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    Chapter 49 Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.
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    Chapter 50 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations
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    Chapter 51 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
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    Chapter 52 Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report
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    Chapter 53 Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years
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    Chapter 54 Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients
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    Chapter 56 Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI
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    Chapter 57 Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
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    Chapter 59 Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience
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    Chapter 60 Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
Attention for Chapter 38: A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
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Chapter title
A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.
Chapter number 38
Book title
JIMD Reports - Case and Research Reports, 2011/2
Published in
JIMD Reports, September 2011
DOI 10.1007/8904_2011_38
Pubmed ID
23430849
Book ISBNs
978-3-64-224757-6, 978-3-64-224758-3
Authors

Kilic M, Taskesen M, Coskun T, Gürakan F, Tokatli A, Sivri HS, Dursun A, Schmitt S, Küry S, M. Kilic, M. Taskesen, T. Coskun, F. Gürakan, A. Tokatli, H. S. Sivri, A. Dursun, S. Schmitt, S. Küry, Kilic, M., Taskesen, M., Coskun, T., Gürakan, F., Tokatli, A., Sivri, H. S., Dursun, A., Schmitt, S., Küry, S.

Abstract

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc deficiency due to an abnormal intestinal zinc transporter. It is characterized by the triad of acral dermatitis, alopecia, and diarrhoea. Once AE is correctly diagnosed, patients are treated with orally administered zinc sulphate. In some patients, relapses occur during adolescence, despite the regular treatment. Here, we discuss the clinical and molecular features of a 13-year-old adolescent girl with acrodermatitis enteropathica who was resistant to high-dose zinc sulphate therapy. We successfully treated the patient with zinc gluconate and vitamin C, and we detected a novel homozygous c.541_551dup (p.Leu186fsX38) mutation in the exon 3 of her SLC39A4 gene.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 3 20%
Other 2 13%
Student > Ph. D. Student 2 13%
Researcher 2 13%
Student > Doctoral Student 1 7%
Other 1 7%
Unknown 4 27%
Readers by discipline Count As %
Medicine and Dentistry 5 33%
Agricultural and Biological Sciences 2 13%
Business, Management and Accounting 1 7%
Social Sciences 1 7%
Neuroscience 1 7%
Other 0 0%
Unknown 5 33%
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 February 2013.
All research outputs
#20,184,694
of 22,699,621 outputs
Outputs from JIMD Reports
#480
of 541 outputs
Outputs of similar age
#115,322
of 125,639 outputs
Outputs of similar age from JIMD Reports
#8
of 9 outputs
Altmetric has tracked 22,699,621 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 541 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 9 others from the same source and published within six weeks on either side of this one.

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