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JIMD Reports, Volume 24

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Cover of 'JIMD Reports, Volume 24'

Table of Contents

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    Book Overview
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    Chapter 380 Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
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    Chapter 403 Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria
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    Chapter 412 JIMD Reports, Volume 24
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    Chapter 430 JIMD Reports, Volume 24
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    Chapter 431 Age-Related Deviation of Gait from Normality in Alkaptonuria
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    Chapter 436 Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers
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    Chapter 437 JIMD Reports, Volume 24
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    Chapter 444 Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
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    Chapter 445 CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.
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    Chapter 446 A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy
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    Chapter 447 High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
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    Chapter 450 Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
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    Chapter 451 Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis
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    Chapter 452 High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia
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    Chapter 453 The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
Attention for Chapter 453: The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
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Chapter title
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis
Chapter number 453
Book title
JIMD Reports, Volume 24
Published in
JIMD Reports, January 2015
DOI 10.1007/8904_2015_453
Pubmed ID
Book ISBNs
978-3-66-248226-1, 978-3-66-248227-8
Authors

N. B. Roberts, S. A. Curtis, A. M. Milan, L. R. Ranganath

Abstract

The pigments found in plants, animals and humic substances are well described and classified. In humans considerable progress has been made with the main pigment melanin in defining its biochemistry, the different types and function. However, analytical techniques to show these differences in vivo are still not readily available. NMR and IR spectroscopy are relatively insensitive and reveal only major structural differences. Techniques utilising MS are useful in determining elemental content but require further studies to optimise conditions for accurate mass analysis. How the components may be structurally organised seems to be the most problematic with scanning TEM and the improved FTIR of use in this respect. As regards understanding the nature of the pigment related to HGA seen in patients with Alkaptonuria (AKU), it is still thought of as a melaninlike pigment simply because of its colour and likewise thought to be a polymer of undetermined size. It is important that detailed analysis be carried out to define more accurately this pigment. However, observations suggest it to be the same as the HGA-derived pigment, pyomelanin, produced by bacteria and containing both quinone and phenolic groups. The interesting developments in alkaptonuria will be to understand how such a polymer can cause such profound collagen and connective tissue damage and how best to reverse this process.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 38 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 16%
Student > Doctoral Student 6 16%
Student > Bachelor 4 11%
Student > Master 3 8%
Professor 2 5%
Other 9 24%
Unknown 8 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 24%
Medicine and Dentistry 6 16%
Chemistry 3 8%
Agricultural and Biological Sciences 2 5%
Immunology and Microbiology 2 5%
Other 4 11%
Unknown 12 32%