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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Journal of paediatrics and child health, 2021-04, Vol.57 (4), p.519-525

2021

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Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Nutrients, 2021-08, Vol.13 (9), p.2987

2021

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Two different presentations of de novo variants of CSNK2B: two case reports

Journal of medical case reports, 2022-01, Vol.16 (1), p.4-4, Article 4

2022

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Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

Clinical & experimental ophthalmology, 2020-04, Vol.48 (3), p.334-342

2020

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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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Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

JIMD reports, 2021-07, Vol.60 (1), p.32-41

2021

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Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Fluids and barriers of the CNS, 2017-09, Vol.14 (1), p.23-23, Article 23

2017

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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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Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Genetics in medicine, 2018-11, Vol.20 (11), p.1423-1429

2018

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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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Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Fluids and barriers of the CNS, 2017-10, Vol.14 (1), p.28-28, Article 28

2017

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Erratum to: 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, 2015-09, Vol.38 (5), p.987-987

2015

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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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Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2891-2901

2020

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Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

BMC medical genetics, 2016-05, Vol.17 (1), p.39-39, Article 39

2016

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Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

The Pediatric clinics of North America, 2018-04, Vol.65 (2), p.247-265

2018

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A useful multi-analyte blood test for cerebrotendinous xanthomatosis

Clinical biochemistry, 2014-06, Vol.47 (9), p.860-863

2014

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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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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

BMC medical genetics, 2014-09, Vol.15 (1), p.96-96, Article 96

2014

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Body composition in patients with hepatic glycogen storage diseases

Nutrition (Burbank, Los Angeles County, Calif.), 2022-11, Vol.103-104, p.111763-111763, Article 111763

2022

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Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Biochimica et biophysica acta, 2016-09, Vol.1862 (9), p.1608-1616

2016

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Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

Child's nervous system, 2017-07, Vol.33 (7), p.1073-1080

2017

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Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

Human molecular genetics, 2017-10, Vol.26 (19), p.3837-3849

2017

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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.92-97

2017

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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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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Two different presentations of de novo variants of CSNK2B: two case reports

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

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

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

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

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

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

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

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

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

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

A useful multi-analyte blood test for cerebrotendinous xanthomatosis

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

Body composition in patients with hepatic glycogen storage diseases

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

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

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