M. J. Aguiar

Publications22
h-index10
Citations311
Highly Influential Citations14
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Newborn screening: what pediatricians should know.
TLDR
The role of pediatricians in neonatal screening programs is defined to better define the screening panels to be implemented and a large number of scientific and ethical questions need to be discussed.
Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome
TLDR
This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS, and designed a new method based on hemi‐nested PCR to obtain DNA amplification from paraffin‐embedded tissues.
The time has come: a new scene for PKU treatment.
TLDR
This study evaluated several new therapeutic options for phenylalanine-restricted PKU in terms of theoretical basis, methodologies, efficacy, and costs.
Variations in genotype-phenotype correlations in phenylketonuria patients.
TLDR
The genotype was observed to be a good predictor of the clinical course of the patients and significant correlations were found between phenylalanine values at first interview and predicted residual activity, genotype and arbitrary value sum.
Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys.
TLDR
A non-isotopic polymerase chain reaction (PCR) technique for fragile X syndrome diagnosis was used to screen 256 mentally retarded boys who were selected randomly from special schools and identified five boys with the expanded allele and 17 other patients as carriers of either premutated or gray-zone alleles.
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome
TLDR
Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes resulting in apparent muscle hypertrophy.
PKU in Minas Gerais State, Brazil: Mutation Analysis
TLDR
The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula, however, there were some mutations that are rare in Europe and four previously unreported mutation‐haplotype associations.
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
TLDR
The incidence of biotinidase deficiency in newborn screening in Minas Gerais was higher than several international studies, and oral daily biotin apparently precluded clinical symptoms, but it may be unnecessary in some newborns.
Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism.
TLDR
The contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism in patients with phenotypic manifestations of fragile-X-associated tremor/ataxia syndrome was 15/748 (2%).
Newborn screening: what pediatricians should know
TLDR
The literature on the current situation of neonatal screening worldwide and in Brazil is reviewed to define the role of pediatricians in Neonatal screening programs.
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