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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.

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