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JIMD Reports - Case and Research Reports, 2011/3

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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 67: Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.
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Chapter title
Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantation.
Chapter number 67
Book title
JIMD Reports - Case and Research Reports, 2011/3
Published in
JIMD Reports, September 2011
DOI 10.1007/8904_2011_67
Pubmed ID
23430879
Book ISBNs
978-3-64-224935-8, 978-3-64-224936-5
Authors

Alkhunaizi AM, Al-Sannaa NA, Raslan WF, Ahmed M. Alkhunaizi, Nouriya A. Al-Sannaa, Wasim F. Raslan, Alkhunaizi, Ahmed M., Al-Sannaa, Nouriya A., Raslan, Wasim F.

Abstract

Primary hyperoxaluria type I (PH I) is a rare genetic disorder that leads to end stage renal disease (ESRD) at an early age due to excessive deposition of calcium oxalate in the kidney. Combined liver-kidney transplantation (LKTx) has been advocated as the treatment of choice for patients with PH I who have progressive renal disease. With combined LKTx the risk of early renal failure secondary to oxalate deposition is anticipated. Here we report a patient with PH I who developed ESRD and underwent a combined LKTx. He lost the kidney graft secondary to early recurrence of oxalosis. Repeat kidney transplantation 13 months after the initial procedure was successful. Elevated plasma oxalate levels persisted for a long time following LKTx and lead to further deposition of oxalate in the second kidney graft. Combined LKTx for patients with PH I requires meticulous preparation and very careful post operative management. Sequential liver transplantation followed by kidney transplantation is to be considered for PH I patients who have ESRD and very high oxalate load.

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X Demographics

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

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 2 25%
Other 1 13%
Student > Master 1 13%
Researcher 1 13%
Student > Postgraduate 1 13%
Other 0 0%
Unknown 2 25%
Readers by discipline Count As %
Medicine and Dentistry 3 38%
Agricultural and Biological Sciences 2 25%
Biochemistry, Genetics and Molecular Biology 1 13%
Unknown 2 25%
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 26 August 2013.
All research outputs
#15,278,165
of 22,719,618 outputs
Outputs from JIMD Reports
#346
of 542 outputs
Outputs of similar age
#87,936
of 125,672 outputs
Outputs of similar age from JIMD Reports
#6
of 9 outputs
Altmetric has tracked 22,719,618 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 542 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 27th percentile – i.e., 27% 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 125,672 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 18th percentile – i.e., 18% 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 3 of them.

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