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List of works by Charles M Lourenço

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

scientific article published on 28 February 2013

Epilepsy in mucopolysaccharidosis disorders

scientific article published on 16 October 2017

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence

scientific article published on 21 May 2013

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

scientific article published on 01 November 2020

Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis

scientific article published on 01 October 2020

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

scientific article

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

scientific article

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

scientific article published on 01 May 2010

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