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JIMD Reports, Volume 15

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Cover of 'JIMD Reports, Volume 15'

Table of Contents

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    Book Overview
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    Chapter 291 4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3
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    Chapter 292 Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood
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    Chapter 293 Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
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    Chapter 294 Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.
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    Chapter 295 Report of Two Never Treated Adult Sisters with Aromatic l -Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?
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    Chapter 296 Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
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    Chapter 298 Mortality in Patients with Morquio Syndrome A
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    Chapter 299 Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease.
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    Chapter 300 Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
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    Chapter 302 Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
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    Chapter 303 Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations
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    Chapter 304 Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Adverse Events by Switching from Agalsidase Beta (Fabrazyme(®)) to Agalsidase Alfa (Replagal (®)).
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    Chapter 305 Deep Brain Stimulation and Dantrolene for Secondary Dystonia in X-Linked Adrenoleukodystrophy
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    Chapter 306 Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood
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    Chapter 308 Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
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    Chapter 369 Erratum to: Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking Ahead
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JIMD Reports, Volume 15
Published by
Springer Berlin Heidelberg, December 2014
DOI 10.1007/978-3-662-43751-3
978-3-66-243750-6, 978-3-66-243751-3

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

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