JIMD Reports, Volume 14

Chapter 276 Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Chapter 277 Danon Disease Due to a Novel LAMP2 Microduplication

Chapter 278 Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis

Chapter 279 Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study.

Chapter 280 Abnormalities in Glycogen Metabolism in a Patient with Alpers' Syndrome Presenting with Hypoglycemia.

Chapter 281 Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

Chapter 282 Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome

Chapter 283 Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

Chapter 284 The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH₄) Responsiveness.

Chapter 285 Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor

Chapter 286 Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years’ Experience

Chapter 287 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Chapter 288 Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Chapter 289 Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Chapter 290 Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

Chapter 314 Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N -Acetylaspartate