JIMD Reports, Volume 17

Front Matter....Pages i-vi
Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report....Pages 1-6
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....Pages 7-12
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus....Pages 13-21
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis....Pages 23-27
Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort....Pages 29-36
The Complexity of Newborn Screening Follow-Up in Phenylketonuria....Pages 37-39
Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia....Pages 41-46
m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening....Pages 47-51
Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey....Pages 53-61
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV....Pages 63-66
Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency....Pages 67-70
Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype....Pages 71-75
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD -Homocystinuria Inborn Error of Cobalamin Metabolism....Pages 77-81
Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up....Pages 83-90
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III....Pages 91-95