Search Results - "DE SOUZA, M. F"
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Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases
Published in Nutrients (27-08-2021)“…The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I,…”
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Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses
Published in Fluids and barriers of the CNS (18-09-2017)“…Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish…”
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Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses
Published in Fluids and barriers of the CNS (13-10-2017)“…After publication of the article [1], it has been brought to our attention that the full funding acknowledgement is missing from the original article…”
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Correlations between resistance training‐induced changes on phase angle and biochemical markers in older women
Published in Scandinavian journal of medicine & science in sports (01-10-2018)“…The main purpose of this study was to investigate the effects of 12 weeks of resistance training (RT) on phase angle (PhA), inflammatory and oxidative stress…”
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5
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism
Published in Orphanet journal of rare diseases (10-06-2016)“…Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public…”
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First Paleogenetic Evidence of Probable Syphilis and Treponematoses Cases in the Brazilian Colonial Period
Published in BioMed research international (01-01-2018)“…Despite interest in the origins of syphilis, paleopathological analysis has not provided answers, and paleogenetic diagnosis remains a challenge. Even venereal…”
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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Published in PloS one (22-06-2017)“…[This corrects the article DOI: 10.1371/journal.pone.0177503.]…”
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8
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison
Published in Genetics in medicine (01-11-2018)“…Purpose Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy…”
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9
Operation of a CAES Facility Under Price Uncertainties Using Robust Optimization
Published in 2021 IEEE Power & Energy Society General Meeting (PESGM) (26-07-2021)“…This paper proposes a robust optimization model to maximize the profit of a price-taker Compressed Air Energy Storage (CAES) plant under price uncertainty. In…”
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Conference Proceeding -
10
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Published in PloS one (12-05-2017)“…The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always…”
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11
Stochastic Induction of Long-Term Potentiation and Long-Term Depression
Published in Scientific reports (03-08-2016)“…Long-term depression (LTD) and long-term potentiation (LTP) of granule-Purkinje cell synapses are persistent synaptic alterations induced by high and low rises…”
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12
Fault Detection and Diagnosis Based on Unsupervised Machine Learning Methods: A Kaplan Turbine Case Study
Published in Energies (Basel) (01-01-2022)“…From the breakdown of the Kaplan rotor of a hydrogenerator unit and the monitored data collected during its operation before such a failure, this work presents…”
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13
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases
Published in Journal of inherited metabolic disease (01-05-2015)“…Uncooked cornstarch (UCCS) is a widely used treatment strategy for patients with hepatic glycogen storage disease (GSD). It has been observed that GSD-patients…”
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14
Molecular mechanisms of detection and discrimination of dynamic signals
Published in Scientific reports (06-02-2018)“…Many molecules decode not only the concentration of cellular signals, but also their temporal dynamics. However, little is known about the mechanisms that…”
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15
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
Published in Journal of paediatrics and child health (01-04-2021)“…Aim Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient…”
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Pre-Columbian Chagas disease in Brazil: Trypanosoma cruzi I in the archaeological remains of a human in Peruaçu Valley, Minas Gerais, Brazil
Published in Memórias do Instituto Oswaldo Cruz (01-08-2008)“…We evaluated the presence and distribution of Trypanosoma cruzi DNA in a mummy presenting with megacolon that was dated as approximately 560 ± 40 years old…”
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17
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy
Published in Clinical & experimental ophthalmology (01-04-2020)“…Background Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by α‐L‐iduronidase deficiency, resulting in accumulation of…”
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Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency
Published in American journal of medical genetics. Part A (01-12-2020)“…The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase…”
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Pain during and after-hernioplasty in raquidian or locorregional anesthesia by locking peripheral nerves
Published in Hernia : the journal of hernias and abdominal wall surgery (01-12-2019)“…Purpose To analyze pain scores after surgery in a group of patients submitted to inguinal hernia repair under peripheral nerve block with local or spinal…”
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20
Photochemical and Photophysical Properties of Phthalocyanines Modified with Optically Active Alcohols
Published in Molecules (Basel, Switzerland) (24-07-2015)“…Three phthalocyanine derivatives were synthesized and characterized: one modified with a racemic mixture of 1-(4-bromophenyl)ethanol and two other macrocycles…”
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