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JIMD Reports - Volume 12

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Cover of 'JIMD Reports - Volume 12'

Table of Contents

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    Book Overview
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    Chapter 234 Propionic Acidemia and Optic Neuropathy: A Report of Two Cases
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    Chapter 237 Chronic Kidney Disease in an Adult with Propionic Acidemia
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    Chapter 238 Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome.
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    Chapter 239 Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation
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    Chapter 240 Niemann-Pick Disease Type C: New Aspects in a Long Published Family – Partial Manifestations in Heterozygotes
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    Chapter 241 Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome
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    Chapter 242 A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
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    Chapter 243 Pulmonary Manifestations in a Patient with Transaldolase Deficiency
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    Chapter 244 Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility
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    Chapter 245 A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency
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    Chapter 246 Accumulation of Ordered Ceramide-Cholesterol Domains in Farber Disease Fibroblasts
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    Chapter 247 Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
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    Chapter 248 Motor Development Skills of 1- to 4-Year-Old Iranian Children with Early Treated Phenylketonuria
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    Chapter 249 A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase ( GALT ) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha ( IL11RA ) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities
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    Chapter 250 Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease
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    Chapter 251 Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability
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    Chapter 252 Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
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    Chapter 253 No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3
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    Chapter 254 Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency
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    Chapter 255 Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome
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Title
JIMD Reports - Volume 12
Published by
Springer International Publishing, July 2014
DOI 10.1007/978-3-319-03461-4
ISBNs
978-3-31-903460-7, 978-3-31-903461-4
Editors

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

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