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JIMD Reports - Case and Research Reports, Volume 13

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Cover of 'JIMD Reports - Case and Research Reports, Volume 13'

Table of Contents

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    Book Overview
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    Chapter 256 Cystinosis with Sclerotic Bone Lesions
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    Chapter 257 Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency.
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    Chapter 258 Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent
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    Chapter 259 Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
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    Chapter 260 High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria.
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    Chapter 261 A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.
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    Chapter 262 Newborn Screening for Glutaric Aciduria-II: The New England Experience
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    Chapter 263 Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
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    Chapter 264 Vestibular and Saccadic Abnormalities in Gaucher’s Disease
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    Chapter 265 Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry
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    Chapter 266 Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington State
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    Chapter 267 Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation
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    Chapter 268 Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat
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    Chapter 269 Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome
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    Chapter 270 Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells
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    Chapter 271 Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome
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    Chapter 272 Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion
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    Chapter 273 Dietary Habits and Metabolic Control in Adolescents and Young Adults with Phenylketonuria: Self-Imposed Protein Restriction May Be Harmful
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    Chapter 274 Behavioral Responses in Rats Submitted to Chronic Administration of Branched-Chain Amino Acids.
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    Chapter 275 Application of a Second-Tier Newborn Screening Assay for C5 Isoforms
Attention for Chapter 265: Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry
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24 Mendeley
Summary
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Chapter title
Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry
Chapter number 265
Book title
JIMD Reports - Case and Research Reports, Volume 13
Published in
JIMD Reports, November 2013
DOI 10.1007/8904_2013_265
Pubmed ID
24190798
Book ISBNs
978-3-64-254148-3, 978-3-64-254149-0
Authors

Romain Filee, Roland Schoos, François Boemer

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 17%
Student > Doctoral Student 3 13%
Student > Ph. D. Student 3 13%
Lecturer 2 8%
Professor > Associate Professor 2 8%
Other 2 8%
Unknown 8 33%
Readers by discipline Count As %
Medicine and Dentistry 5 21%
Pharmacology, Toxicology and Pharmaceutical Science 2 8%
Agricultural and Biological Sciences 2 8%
Business, Management and Accounting 2 8%
Environmental Science 1 4%
Other 3 13%
Unknown 9 38%

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