Results 111 to 120 of about 12,643 (191)

Glikomimetrikumok előállítása anhidro-aldiminekből = Synthesis of glycomimetics from anhydro-aldimines [PDF]

, 2009
Célkitűzésünk potenciális glikoenzim (glikozil-transzferáz, glikozidáz vagy glikogén foszforiláz) inhibitorok előállítása volt, melyek szerepet játszhatnak a működésmód felderítésben, illetve szerepük lehet például a rák, diabetes, egyes lizoszomális ...
Vágvölgyiné dr.Tóth, Marietta
core  

Late-Onset Tay-Sachs Disease - expanding the clinical phenotype. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Lefter S, Ryan AM.
europepmc   +1 more source

Spartan Daily, February 8, 1990 [PDF]

, 1990
Volume 94, Issue 9https://scholarworks.sjsu.edu/spartandaily/7939/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

Вопросы современной педиатрии
Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in
Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii   +3 more
doaj   +1 more source

New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]

, 2016
Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
core   +1 more source

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Riboldi GM, Lau H.
europepmc   +1 more source

Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron

Neurobiology of Disease
Tay-Sachs disease (TSD) is a congenital lysosomal storage disorder, caused by deficiency in the α-subunit of β-hexosaminidase A, leading to GM2 ganglioside accumulation in the central nervous system.
Yumeng Zhang, Tadahiro Numakawa, Ryutaro Kajihara, Kiseok Lee, Jing Pu, Chisato Horita, Jun Kido, Muneaki Matsuo, Takumi Era   +8 more
doaj   +1 more source

Natural history of Tay-Sachs disease in sheep. [PDF]

Mol Genet Metab, 2021
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, Johnson S, Fernau D, Diffie E, Cuddon P, Corado C, Chandra S, Sena-Esteves M, Kolodny E, Jiang X, Martin D, Gray-Edwards H.   +20 more
europepmc   +1 more source

Appropriate Aims: Setting Boundaries for Reprogenetic Technology [PDF]

, 2002
Not too long ago, ten fingers and ten toes defined a successful birth. Not too far from now, ten fingers and ten toes will be just the beginning. Parents always hope for a healthy baby, and medical advances continue to help secure the fulfillment of this
Ziker, Dana
core   +1 more source

Gene expression changes in Tay-Sachs disease begin early in fetal brain development. [PDF]

J Inherit Metab Dis, 2023
Han ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ.   +6 more
europepmc   +1 more source