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Epidemiological aspects of hereditary fructose intolerance: A database study

Human mutation, 2021-12, Vol.42 (12), p.1548-1566

2021

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Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

Molecular genetics & genomic medicine, 2020-06, Vol.8 (6), p.e1214-n/a

2020

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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

Journal of human genetics, 2016-06, Vol.61 (6), p.555-560

2016

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KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword

Cellular and molecular life sciences : CMLS, 2020-09, Vol.77 (17), p.3465-3466

2020

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Molecular basis of various forms of maple syrup urine disease in Chilean patients

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1616-n/a

2021

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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.160-170

2018

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Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study

Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.283-7, Article 283

2024

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Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

Genetics and molecular biology, 2022, Vol.45 (1), p.e20200432-e20200432

2022

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In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

Genetics and molecular biology, 2023-01, Vol.46 (3 suppl 1), p.e20230117-e20230117

2023

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Homocysteine and methylmalonic acid in Phenylketonuria patients

Genetics and molecular biology, 2023-01, Vol.46 (3 Suppl 1), p.e20230103-e20230103

2023

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Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing

Genes, 2023-12, Vol.14 (12), p.2219

2023

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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

Genetics in medicine, 2021-12, Vol.23 (12), p.2369-2377

2021

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A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.254-254, Article 254

2021

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

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.1-309, Article 309

2020

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Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.631-640

2018

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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study

Journal of inborn errors of metabolism and screening, 2024, Vol.12

2024

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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PloS one, 2017-05, Vol.12 (5), p.e0177503-e0177503

2017

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Determination of amylose/amylopectin ratio of starches

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.985-986

2015

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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

Genetics and molecular biology, 2020-01, Vol.43 (3), p.20190298-20190298

2020

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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

Reproductive and developmental medicine, 2022-06, Vol.6 (2), p.92-97

2022

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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Genetics and molecular biology, 2021-01, Vol.44 (2), p.e20200281-e20200281

2021

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Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

Genes, 2020-12, Vol.12 (1), p.20

2020

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The rs2229611 (G6PC:c.23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100659-100659, Article 100659

2020

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Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

Molecular genetics & genomic medicine, 2019-11, Vol.7 (11), p.e877-n/a

2019

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Epidemiological aspects of hereditary fructose intolerance: A database study

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword

Molecular basis of various forms of maple syrup urine disease in Chilean patients

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

Homocysteine and methylmalonic acid in Phenylketonuria patients

Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

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

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Determination of amylose/amylopectin ratio of starches

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients

The rs2229611 (G6PC:c.23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

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