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Journal of Autism and Developmental Disorders

Gepubliceerd in:

28-10-2021 | Letter to the Editor

Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay

Auteurs: Lucia Pia Bruno, Francesca Fava, Margherita Baldassarri, Virginia M. Salvati, Valeria Scandurra, Roberto Canitano, Floriana Valentino, Gabriella Doddato, Rossella Tita, Annarita Giliberti, Alessandra Renieri, Francesca Ariani

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2022

Excerpt

To the Editor, …

vorige artikel Brief Report: Emotional and Behavioral Problems Among Young Children with ASD: An Exploratory Study of ADOS E-Codes and Child Characteristics

volgende artikel Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders

Benetó, N., Vilageliu, L., Grinberg, D., & Canals, I. (2020). Sanfilippo syndrome: Molecular basis, disease models and therapeutic approaches. International Journal of Molecular Sciences, 21(21), 7819.CrossRef

Kaczor-Kamińska, M., Stalińska, K., Kamiński, K., Pisarek, A., Maziarz, U., Feldman, A., & Wróbel, M. (2020). Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) - A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism. Biochimie, 174, 84–94.CrossRef

Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., Orii, T., & Tomatsu, S. (2017). Epidemiology of mucopolysaccharidoses. Molecular Genetics and Metabolism, 121(3), 227–240.CrossRef

Lidia, G., Pierzynowska, K., Piotrowska, E., & Wegrzyn, G. (2018). How close are we to therapies for Sanfilippo disease? Metabolic Brain Disease, 33, 1–10.CrossRef

Lin, H. Y., Lo, Y. T., Wang, T. J., et al. (2019). Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis. Science and Reports, 9, 10755.CrossRef

Ozkinay, F., Emecen, D. A., Kose, M., Isik, E., Bozaci, A. E., Canda, E., Tuysuz, B., Zubarioglu, T., Atik, T., & Onay, H. (2021). Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations. Molecular Genetics and Metabolism Report, 27(3), 100732.CrossRef

Porter, K. A., O’Neill, C., Drake, E., Parker, S., Escolar, M. L., Montgomery, S., Moon, W., Worral, C., & Peay, H. L. (2021). Parent experiences of sanfilippo syndrome impact and unmet treatment needs: a qualitative assessment. Neurology Therapy, 10, 197–212.CrossRef

Weber, B., Guo, X.-H., Kleijer, W. J., van de Kamp, J. J., Poorthuis, B. J., & Hopwood, J. J. (1999). Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. European Journal of Human Genetics, 7(1), 34–44.CrossRef

Wijburg, F. A., Węgrzyn, G., Burton, B. K., & Tylki-Szymańska, A. (2013). Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatrica, 102(5), 462–470.CrossRef

Zhao, H. G., Li, H. H., Bach, G., Schmidtchen, A., & Neufeld, E. F. (1996). The molecular basis of Sanfilippo syndrome type B. Proceedings of the National Academy of Sciences of the United States of America, 93(12), 6101–6105.CrossRef

Titel: Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay
Auteurs: Lucia Pia Bruno
Francesca Fava
Margherita Baldassarri
Virginia M. Salvati
Valeria Scandurra
Roberto Canitano
Floriana Valentino
Gabriella Doddato
Rossella Tita
Annarita Giliberti
Alessandra Renieri
Francesca Ariani
Publicatiedatum: 28-10-2021
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 10/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-021-05332-x

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