Results 121 to 130 of about 4,196 (206)

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +1 more source

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses. [PDF]

Biol Open
Barker EN, Ashiri M, Saville JT, Hemming R, Furletti N, Dhume SH, Yu S, Anjos E, Wu X, Fresnoza A, Merz DC, Jackson M, Del Bigio MR, Siddiqui TJ, Fuller M, Mark BL, Triggs-Raine B.   +16 more
europepmc   +1 more source

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]

Int J Mol Sci
Vanegas S, Ramírez-Montaño D, Padilla-Guzmán A, Pachajoa H.   +3 more
europepmc   +1 more source

Synthesis, function, and therapeutic potential of glycosphingolipids. [PDF]

Front Immunol
Dong L, Cao Z, Han W, Wu Z.
europepmc   +1 more source

Evaluation and treatment of severe hyperacusis [PDF]

, 2000
Duddy, Diane, Goebel, Joel, Peterin, Judy, Sinks, Belinda, Valente, Michael   +4 more
core   +1 more source

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds. [PDF]

Molecules
Abidi I, Kocev AN, Babulic JL, Capicciotti CJ, Walia J, Brockhausen I.   +5 more
europepmc   +1 more source

Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases. [PDF]

Front Neuroimaging
Shazeeb MS, Acosta MT, Tifft CJ.
europepmc   +1 more source

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. [PDF]

, 2004
Caciotti, A, Campos, Y, D&apos, Drousiotou, A, Georgiou, T, Gururaj, A, Morrone, Amelia, Ozand, P, Sztriha, L, Zammarchi, Enrico   +9 more
core   +1 more source

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source