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Publications by Roberto Giugliani

The Natural History of MPS I: Global Perspectives From the MPS I Registry

Genetics in Medicine

English

Pathogenesis of Lumbar Spine Disease in Mucopolysaccharidosis VII

Molecular Genetics and Metabolism

Molecular Biology

English

Newborn Screening for Mucopolysaccharidoses: A Pilot Study of Measurement of Glycosaminoglycans by Tandem Mass Spectrometry

Molecular Genetics and Metabolism

Molecular Biology

English

Rare Disease Landscape in Brazil: Report of a Successful Experience in Inborn Errors of Metabolism

Orphanet Journal of Rare Diseases

English

Evidence of a Progressive Motor Dysfunction in Mucopolysaccharidosis Type I Mice

Behavioural Brain Research

Behavioral Neuroscience

English

Prevalence of the BRCA1 Founder Mutation C.5266dupin Brazilian Individuals At-Risk for the Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Cancer in Clinical Practice

English

Medical Genetics – Special Issue Dedicated to the 35th Anniversary of the Medical Genetics Service, Hospital De Clínicas De Porto Alegre, Brazil

Genetics and Molecular Biology

Molecular Biology

English

A Useful Multi-Analyte Blood Test for Cerebrotendinous Xanthomatosis

Clinical Biochemistry

Clinical Biochemistry

English

Importância Da Biópsia Hepática No Diagnóstico Da Deficiência De Lipase Ácida Lisossomal: Relato De Caso

Revista Paulista de Pediatria

English

Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses

Journal of Inborn Errors of Metabolism and Screening

English