Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles.
-
Leal AF, Inci OK, Seyrantepe V, Rintz E, Celik B, Ago Y, Le?n D, Suarez DA, Alm?ciga-D?az CJ, Tomatsu S. Molecular Trojan Horses for treating lysosomal storage diseases. Mol Genet Metab. 2023 11; 140(3):107648.
-
Moore KM, Wolf NI, Hobson G, Bowyer K, McSherry J, Hartin G, Wilde C, Shapiro S, Frank J, Manley D, Junge C. Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact. J Child Neurol. 2023 02; 38(1-2):78-84.
-
Leal AF, Benincore-Fl?rez E, Rintz E, Herre?o-Pach?n AM, Celik B, Ago Y, Alm?ciga-D?az CJ, Tomatsu S. Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets. Int J Mol Sci. 2022 Dec 28; 24(1).
-
Safary A, Moghaddas-Sani H, Akbarzadeh-Khiavi M, Khabbazzi A, Rafi MA, Omidi Y. Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses. Expert Opin Biol Ther. 2021 09; 21(9):1181-1197.
-
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. Am J Med Genet A. 2020 08; 182(8):1906-1912.
-
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet. 2020 Jul; 65(7):557-567.
-
Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 05; 40(6):738-745.
-
Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Tomatsu S. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019 Nov; 64(11):1153-1171.
-
Safary A, Akbarzadeh Khiavi M, Omidi Y, Rafi MA. Targeted enzyme delivery systems in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis. Cell Mol Life Sci. 2019 Sep; 76(17):3363-3381.
-
Gimovsky AC, Luzi P, Berghella V. Lysosomal storage disease as an etiology of nonimmune hydrops. Am J Obstet Gynecol. 2015 Mar; 212(3):281-90.