JIMD Reports - Case and Research Reports, 2012/3

Chapter 94 A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

Chapter 95 Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome

Chapter 102 Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

Chapter 116 D-Serine Influences Synaptogenesis in a P19 Cell Model

Chapter 117 Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients

Chapter 118 Cardiac Pathology in Glycogen Storage Disease Type III.

Chapter 119 Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience

Chapter 120 Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis

Chapter 121 Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

Chapter 122 The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy

Chapter 123 Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

Chapter 124 Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

Chapter 125 Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance

Chapter 126 Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells Provide Enzyme to Residual Enzyme-Deficient Recipient Cells

Chapter 127 Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

Chapter 129 Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening

Chapter 130 Newborn Screening for Lysosomal Storage Disorders in Hungary

Chapter 131 Successful Weight Loss in Two Adult Patients Diagnosed with Late-Onset Long-Chain Fatty Acid Oxidation Defect

Chapter 137 Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides

Chapter 139 Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings