Results 141 to 150 of about 2,254 (171)

Regulation of lysosomal ion homeostasis by channels and transporters [PDF]

, 2016

core   +1 more source

Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. [PDF]

Hum Gene Ther
Herreño-Pachón AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, Álvarez JV, Tomatsu S.   +6 more
europepmc   +1 more source

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome). [PDF]

Mol Genet Metab Rep
Sung J, Kim I, Im M, Ahn YJ, Kim SM, Jang JH, Park HD, Jeon TY, Ko KR, Park SJ, Lee JH, Kim EY, Cheon CK, Kang E, Moon JE, Sohn YB, Lin HY, Chuang CK, Lin SP, Cho SY.   +19 more
europepmc   +1 more source

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model. [PDF]

Int J Mol Sci, 2019
Sawamoto K, Tomatsu S.
europepmc   +1 more source

Lentiviral Vector-Mediated <i>Ex Vivo</i> Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model. [PDF]

Hum Gene Ther
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S.   +5 more
europepmc   +1 more source

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report. [PDF]

Medicine (Baltimore), 2018
Xu L, Ren Y, Yin J, Yang J, Liu Y, Zhang J, Zhang Y, Xiang C, Yang L.   +8 more
europepmc   +1 more source

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. [PDF]

Appl Clin Genet, 2018
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM.   +6 more
europepmc   +1 more source

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. [PDF]

Mol Genet Metab, 2018
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S.   +15 more
europepmc   +1 more source

Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA. [PDF]

Orphanet J Rare Dis, 2018
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chuang CK, Lin SP.   +6 more
europepmc   +1 more source

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation. [PDF]

Mol Genet Metab Rep, 2018
Moreno Giraldo LJ, Escudero Rodríguez ÁM, Sánchez Gómez A, Satizabal Soto JM.   +3 more
europepmc   +1 more source