Jimd Reports

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.- Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.- The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.- Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's Disease.- Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI.- The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.- PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?.- Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.- GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.- LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.- Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease.