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Publications by Rafael Artuch

Erratum To: Longitudinal Volumetric and 2D Assessment of Cerebellar Atrophy in a Large Cohort of Children With Phosphomannomutase Deficiency (PMM2-CDG)

Journal of Inherited Metabolic Disease
Genetics
2017English

Synaptic Metabolism and Brain Circuitries in Inborn Errors of Metabolism

Journal of Inherited Metabolic Disease
Genetics
2018English

White Matter Microstructural Damage in Early Treated Phenylketonuric Patients

Orphanet Journal of Rare Diseases
MedicineGeneticsPharmacology
2018English

Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Peripheral Neuropathy With Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA

Pediatric Research
Child HealthPediatricsPerinatology
2004English

Coenzyme Q10 Deficiencies in Neuromuscular Diseases

Advances in Experimental Medicine and Biology
BiochemistryMedicineGeneticsMolecular Biology
2009English

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