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JIMD Reports, Volume 31

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Cover of 'JIMD Reports, Volume 31'

Table of Contents

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    Book Overview
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    Chapter 543 Glycine N -Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
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    Chapter 544 Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders
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    Chapter 545 Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
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    Chapter 546 Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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    Chapter 548 Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
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    Chapter 549 Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease
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    Chapter 550 Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
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    Chapter 551 Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
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    Chapter 552 Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency
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    Chapter 554 Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
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    Chapter 555 N -Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
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    Chapter 557 Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
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    Chapter 558 Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
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    Chapter 563 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
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    Chapter 565 Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency
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    Chapter 577 Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Attention for Chapter 551: Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
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Chapter title
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
Chapter number 551
Book title
JIMD Reports, Volume 31
Published in
JIMD Reports, January 2016
DOI 10.1007/8904_2016_551
Pubmed ID
Book ISBNs
978-3-66-254118-0, 978-3-66-254119-7
Authors

Alexander Laemmle, Tamar Stricker, Johannes Häberle, Laemmle, Alexander, Stricker, Tamar, Häberle, Johannes

Abstract

A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.

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

Geographical breakdown

Country Count As %
Unknown 4 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 1 25%
Student > Bachelor 1 25%
Student > Postgraduate 1 25%
Other 1 25%
Readers by discipline Count As %
Medicine and Dentistry 2 50%
Agricultural and Biological Sciences 1 25%
Pharmacology, Toxicology and Pharmaceutical Science 1 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 20 June 2018.
All research outputs
#18,601,965
of 23,041,514 outputs
Outputs from JIMD Reports
#450
of 558 outputs
Outputs of similar age
#285,708
of 394,744 outputs
Outputs of similar age from JIMD Reports
#10
of 16 outputs
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