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Gene Therapy for Lysosomal Storage Disorders JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation JOURNAL ARTICLE published 7 March 2014 in Journal of Inborn Errors of Metabolism and Screening |
Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses JOURNAL ARTICLE published 2022 in Journal of Inborn Errors of Metabolism and Screening |
Folate and Cancer JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
New Aspects of LSD JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS) JOURNAL ARTICLE published 2023 in Journal of Inborn Errors of Metabolism and Screening |
Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
The Role of Technology in the Neonatal Screening Laboratory JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era JOURNAL ARTICLE published 2021 in Journal of Inborn Errors of Metabolism and Screening |
Glycogen Storage Diseases JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency JOURNAL ARTICLE published January 2018 in Journal of Inborn Errors of Metabolism and Screening Research funded by “FH Zeit für Forschung 2016” by the Ministry of Culture and Science of the German state of North Rhine-Westphalia (project 005-1703-0016, “KETOplus”) |
Hyperprolinemia Type IA JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
Dietary Management of the Ketogenic Glycogen Storage Diseases JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
Clinical Trials in Mitochondrial Disease JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017 JOURNAL ARTICLE published January 2017 in Journal of Inborn Errors of Metabolism and Screening |
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
Small Molecules JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
Microbial Profile of Supragingival and Subgingival Plaque of Patients With Glycogen Storage Disease JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |
A 15-Year Perspective of the Fabry Outcome Survey JOURNAL ARTICLE published 29 July 2016 in Journal of Inborn Errors of Metabolism and Screening |