Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
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| Title: | Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study. |
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| Authors: | den Hollander B; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands., de Boer L; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands., Haaxma CA; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Lengyel A; Pediatric Center, Semmelweis University, Budapest, Hungary., van Essen P; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands., Peters G; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Kwast HJT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Klein WM; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands., Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Haematology, Máxima Medical Centre, Veldhoven, The Netherlands., Lefeber DJ; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 956-971. Date of Electronic Publication: 2023 Jul 08. |
| Publication Type: | Observational Study; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12643 |
