Extraction and Purification of Gangliosides from Plasma and Fibroblasts before Analysis by Thin Layer Chromatography

Autor: Leenders, R G G, de Jong, J G N, Wevers, R A

Publikováno v: Annals of Clinical Biochemistry; January 1995, Vol. 32 Issue: 1 p68-73, 6p

Mucopolysaccharidoses Screening: Dimethylmethylene Blue versus Alcian Blue

Autor: de Jong, J G N, Heijs, W M J, Wevers, R A

Publikováno v: Annals of Clinical Biochemistry; May 1994, Vol. 31 Issue: 3 p267-271, 5p

Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy.

Autor: Mashima, Ryuichi¹ (AUTHOR) mashima-r@ncchd.go.jp, Nakanishi, Mahito² (AUTHOR) nakanishi@tokiwa-bio.com

Publikováno v: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 15, p8153-8153. 18p.

A Prognostic Model Based on Six Metabolism-Related Genes in Colorectal Cancer.

Autor: Sun, Yuan-Lin¹ (AUTHOR), Zhang, Yang¹ (AUTHOR), Guo, Yu-Chen¹ (AUTHOR), Yang, Zi-Hao¹ (AUTHOR), Xu, Yue-Chao¹ (AUTHOR)

Publikováno v: BioMed Research International. 9/1/2020, p1-16. 16p.

Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Autor: De Falco A; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Criscuolo C; Department of Neuroscience, Reproductive, and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Barillari MR; Department of Mental and Physical Health and Preventive Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Scarpato M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Gaudieri V; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy., Cuocolo A; Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy., Russo A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Brunetti-Pierri N; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63517. Date of Electronic Publication: 2023 Dec 27.