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List of works by Roberto Giugliani

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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

scientific article
Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

scientific article published on 01 April 2006
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

scientific article published on February 2008
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

scientific article
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

scientific article
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

scientific article published on 26 May 2009
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

scientific article published on July 9, 2011
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

scientific article published on 23 May 2008
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

scientific article published in June 2005
Management guidelines for mucopolysaccharidosis VI.

scientific article published on August 2007
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

scientific article published on 01 February 2011
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

scientific article published on 21 February 2006
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study

scientific article published on May 9, 2014
Multidisciplinary management of Hunter syndrome.

scientific article
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice

scientific article published in January 2000
Initial report from the Hunter Outcome Survey

scientific article published in July 2008
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

scientific article
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n

scientific article published in June 2001
A clinical study of 77 patients with mucopolysaccharidosis type II

scientific article
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

scientific article
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

scientific article
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

scientific article published on 9 February 2013
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

scientific article published on 01 April 2005
Genetics of homocysteine metabolism and associated disorders

scientific article
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

scientific article
Mutational analysis of 105 mucopolysaccharidosis type VI patients

scientific article published in September 2007
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

article
International guidelines for the management and treatment of Morquio A syndrome.

scientific article published on 24 October 2014
Clinical course of sly syndrome (mucopolysaccharidosis type VII)

scientific article published in June 2016
The natural history of MPS I: global perspectives from the MPS I Registry

scientific article published on March 27, 2014
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

scientific article published on 01 October 2008
Oxidative stress in patients with phenylketonuria.

scientific article published on 25 February 2005
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

scientific article published on 01 January 2005
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey

scientific article published in February 2011
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

scientific article published on November 24, 2012
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

scientific article
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

scientific article
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

scientific article published on 7 January 2004
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

scientific article published on 18 May 2006
Respiratory and sleep disorders in mucopolysaccharidosis

scientific article
The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

scientific article published on October 29, 2011
Diagnosing mucopolysaccharidosis IVA

scientific article published on February 2013
Development of a bile acid-based newborn screen for Niemann-Pick disease type C

scientific article published on May 2016
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

scientific article published on 01 September 2004
Genomic rearrangements in BRCA1 and BRCA2: A literature review.

scientific article
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article
Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

scientific article published on September 6, 2014
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

scientific article
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy

scientific article
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

scientific article published on January 11, 2012

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