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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
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JIMD Reports - Case and Research Reports, Volume 13
Published by
Springer Berlin Heidelberg, January 2014
DOI 10.1007/978-3-642-54149-0
978-3-64-254148-3, 978-3-64-254149-0

Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters

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