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A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2870, doi. 10.3390/ijms25052870
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- Article
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 17, doi. 10.1002/jmd2.12401
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- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
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- Article
RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15 , 1565.
- Published in:
- 2023
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- Correction Notice
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02875-3
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- Article
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
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- Cell Biochemistry & Biophysics, 2023, v. 81, n. 3, p. 533, doi. 10.1007/s12013-023-01149-w
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- Article
Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.
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- Naunyn-Schmiedeberg's Archives of Pharmacology, 2023, v. 396, n. 7, p. 1563, doi. 10.1007/s00210-023-02423-7
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- Article
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
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- Biomedicines, 2023, v. 11, n. 6, p. 1699, doi. 10.3390/biomedicines11061699
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- Article
An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis.
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- Pharmaceutics, 2023, v. 15, n. 5, p. 1565, doi. 10.3390/pharmaceutics15051565
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- Publication type:
- Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
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- Publication type:
- Article
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
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- 2023
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- Correction Notice
GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 408, doi. 10.1002/ajmg.a.63038
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- Article
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
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- International Journal for Equity in Health, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12939-022-01809-y
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- Publication type:
- Article
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02587-0
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- Article
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
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- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1053559
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- Article
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 62, doi. 10.3390/ijns8040062
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- Article
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
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- Therapeutics & Clinical Risk Management, 2022, v. 18, p. 1143, doi. 10.2147/TCRM.S351300
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- Article
Sanfilippo syndrome: consensus guidelines for clinical care.
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- 2022
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- journal article
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039
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- Article
STANDARDIZATION OF AN ORGANIC DNA EXTRACTION METHOD FROM DRIED BLOOD SPOTS AND ITS DOWNSTREAM MOLECULAR APPLICATIONS IN NEONATAL SCREENING AND DIAGNOSTIC CONFIRMATION OF LYSOSOMAL DISORDERS.
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- Clinical & Biomedical Research, 2022, v. 42, n. 3, p. 218, doi. 10.22491/2357-9730.114246
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- Article
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
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- 2022
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- journal article
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.863667
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- Article
Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system.
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- Journal of Gene Medicine, 2022, v. 24, n. 4, p. 1, doi. 10.1002/jgm.3410
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- Article
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 162, doi. 10.1002/jmd2.12270
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- Article
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
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- 2022
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- journal article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
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- 2021
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- journal article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
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- Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
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- Article
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).
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- 2021
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- Publication type:
- journal article
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10938, doi. 10.3390/ijms222010938
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- Article
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2929, doi. 10.1002/ajmg.a.62375
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- Article
Clinical trials for genetic diseases in Latin America.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 381, doi. 10.1002/ajmg.c.31934
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- Article
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9200, doi. 10.3390/ijms22179200
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- Article
Disruption of morphogenic and growth pathways in lysosomal storage diseases.
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- WIREs: Mechanisms of Disease, 2021, v. 13, n. 5, p. 1, doi. 10.1002/wsbm.1521
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- Article
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 23, doi. 10.1002/jmd2.12211
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- Article
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 32, doi. 10.1002/jmd2.12212
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- Article
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
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- 2021
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- journal article
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
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- 2021
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- Publication type:
- journal article
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 740, doi. 10.1002/jimd.12327
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- Article
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
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- 2021
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- Publication type:
- journal article
Mucopolissacaridose tipo I em cão.
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- Acta Scientiae Veterinariae, 2021, v. 49, p. 1, doi. 10.22456/1679-9216.110624
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- Article
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2891, doi. 10.1002/ajmg.a.61871
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- Article
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
- Published in:
- 2020
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- Publication type:
- journal article
Precision Medicine for Lysosomal Disorders.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 8, p. 1110, doi. 10.3390/biom10081110
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- Article
Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 586, doi. 10.1002/jimd.12210
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- Article
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
- Published in:
- 2020
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- Publication type:
- journal article
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 3, p. 334, doi. 10.1111/ceo.13713
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- Article
Estimated birth prevalence of mucopolysaccharidoses in Brazil.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 469, doi. 10.1002/ajmg.a.61456
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- Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
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- Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583
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- Publication type:
- Article
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.
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- Drug Design, Development & Therapy, 2019, v. 13, p. 3705, doi. 10.2147/DDDT.S207856
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- Article
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 96, doi. 10.1002/jmd2.12067
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- Article