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Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.103-103, Article 103

2019

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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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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

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

2017

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Gender, Race and Parenthood Impact Academic Productivity During the COVID-19 Pandemic: From Survey to Action

Frontiers in psychology, 2021-05, Vol.12, p.663252-663252

2021

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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.713-723

2016

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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.14-14, Article 14

2010

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Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.215-225

2021

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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.84-84, Article 84

2022

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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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DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy

Mutation research, 2011-04, Vol.721 (2), p.206-210

2011

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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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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.197-206

2019

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Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Biology, 2015-06, Vol.4 (2), p.383-396

2015

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Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.76-76, Article 76

2016

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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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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

Genetics and molecular biology, 2019-07, Vol.42 (3), p.571-573

2019

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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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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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Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

JIMD reports, 2021-11, Vol.62 (1), p.49-55

2021

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Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism

Gene, 2014-08, Vol.546 (2), p.443-447

2014

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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PloS one, 2017-06, Vol.12 (6), p.e0180463-e0180463

2017

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In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.529-536

2015

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Evidence that DNA damage is associated to phenylalanine blood levels in leukocytes from phenylketonuric patients

Mutation research, 2009-09, Vol.679 (1), p.13-16

2009

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Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1

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

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Gender, Race and Parenthood Impact Academic Productivity During the COVID-19 Pandemic: From Survey to Action

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

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

DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

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

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

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

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

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

Epidemiological aspects of hereditary fructose intolerance: A database study

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

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Evidence that DNA damage is associated to phenylalanine blood levels in leukocytes from phenylketonuric patients

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