JIMD Reports, Volume 17

Chapter 307 JIMD Reports, Volume 17

Chapter 313 Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

Chapter 317 A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Chapter 327 Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

Chapter 328 Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort

Chapter 329 The Complexity of Newborn Screening Follow-Up in Phenylketonuria

Chapter 331 Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia.

Chapter 332 m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening

Chapter 334 Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Chapter 335 A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV

Chapter 338 Cirrhosis Associated with Pyridoxal 5'-Phosphate Treatment of Pyridoxamine 5'-Phosphate Oxidase Deficiency.

Chapter 339 Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype

Chapter 340 Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

Chapter 342 Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Chapter 343 Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III

Chapter 344 Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis