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Twenty Years of Neonatal Screening for Sickle Cell Disease in Brazil: The Challenges of a Continental Country with High Genetic Heterogeneity JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
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Dermatologic Aspects of Fabry Disease JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
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Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
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Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
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A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome) JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening |
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Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation JOURNAL ARTICLE published 2019 in Journal of Inborn Errors of Metabolism and Screening |
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Consolidation of the Neonatal Screening Program as a Public Health Program in Paraguay JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
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Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective JOURNAL ARTICLE published 2024 in Journal of Inborn Errors of Metabolism and Screening |
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Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening |
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A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
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Editorial Letter to Special Issue on Phenylketonuria JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
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Isolated and Combined Remethylation Disorders JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
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Islet Insulin Secretion, β-Cell Mass, and Energy Balance in a Polygenic Mouse Model of Type 2 Diabetes With Obesity JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening |
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Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening |
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Home-Based Care for Patients with Lysosomal Storage Disease: Experiences in Argentina JOURNAL ARTICLE published 2019 in Journal of Inborn Errors of Metabolism and Screening |
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A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
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The Burden Endured by Caregivers of Patients With Morquio A Syndrome JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening |
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A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation inNEU1 JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening |
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Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |