JIMD Reports Volume 16

Front Matter....Pages i-vi
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect....Pages 1-6
Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta....Pages 7-14
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII....Pages 15-24
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis....Pages 25-30
Cognitive and Antipsychotic Medication Use in Monoallelic GBA -Related Parkinson Disease....Pages 31-38
Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I....Pages 39-45
Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency....Pages 47-50
Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders....Pages 51-56
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)....Pages 57-64
Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry....Pages 65-73
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations....Pages 75-79
Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum....Pages 81-87
Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia....Pages 89-94
Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients....Pages 95-99
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates....Pages 101-111