Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Autor: Beesley, C E, Young, E P, Vellodi, A, Winchester, B G

Publikováno v: Journal of Medical Genetics; Nov1998, Vol. 35 Issue 11, p910-914, 5p, 4 Charts, 1 Graph

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Autor: Almenabawy N; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Ramadan M; Pediatric Department, Ahmed Maher Teaching Hospital, Cairo, Egypt., Kamel M; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Mahmoud IG; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Amer F; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Shaheen Y; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Elnaggar W; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt., Selim L; Pediatric Department, Pediatric Neurology and Metabolic Division, Cairo University Children's Hospital, Cairo, Egypt.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Sep; Vol. 191 (9), pp. 2354-2363. Date of Electronic Publication: 2023 Jul 10.

Benchmarking of univariate pleiotropy detection methods applied to epilepsy.

Autor: Adesoji, Oluyomi M., Schulz, Herbert, May, Patrick, Krause, Roland, Lerche, Holger, Nothnagel, Michael

Publikováno v: Human Mutation; Sep2022, Vol. 43 Issue 9, p1314-1332, 19p

Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Autor: Molina Romero, Marta, Yoldi Chaure, Alberto, Gañán Parra, Miguel, Navas Bastida, Purificación, del Pico Sánchez, José Luis, Vaquero Argüelles, Ángel, de la Fuente Vaquero, Paloma, Ramírez López, Juan Pablo, Castilla Alcalá, José Antonio

Publikováno v: Journal of Assisted Reproduction & Genetics; Feb2022, Vol. 39 Issue 2, p341-355, 15p

Lysosomal sulfatases: a growing family.

Autor: Lübke, Torben, Damme, Markus

Publikováno v: Biochemical Journal; 2020, Vol. 477 Issue 20, p3963-3983, 21p