Results 151 to 160 of about 44,987 (189)

Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing. [PDF]

Neurotherapeutics, 2021
Riva A, Striano P.
europepmc   +1 more source

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism. [PDF]

EMBO Mol Med
Wu J, Kakhlon O, Weil M, Lossos A, Minassian BA.   +4 more
europepmc   +1 more source

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study. [PDF]

Biomedicines, 2023
Wilke MVMB, de Oliveira BM, Starosta RT, Shinawi M, Lu L, He M, Ma Y, Stoll J, de Souza CFM, de Siqueira ACM, Vieira SMG, Cerski CT, Refosco LF, Schwartz IVD.   +13 more
europepmc   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. [PDF]

JCI Insight
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS.   +10 more
europepmc   +1 more source

Anomalous Arrangement of Pancreaticobiliary Ducts (APBD)

The journal of the Japanese Practical Surgeon Society, 1992
openaire   +2 more sources

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China. [PDF]

Genes Dis
Chen Y, Shi Y, Gao Y, Hu Y, Zhou L, Hong J, Gan S, Lin X, Chen W, Xu G, He J.   +10 more
europepmc   +1 more source

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease. [PDF]

AJNR Am J Neuroradiol
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A.   +12 more
europepmc   +1 more source

Advancements and perspectives on organelle-targeted fluorescent probes for super-resolution SIM imaging. [PDF]

Chem Sci
Li G, Ge E, Zheng H, Lin W.
europepmc   +1 more source

Tracking the financial flows of Indonesia's COVID-19 vaccination program. [PDF]

PLOS Glob Public Health
Herlinda O, Larasanti A, Sumulyo SAK, Jundullah SM, Mambea IY.   +4 more
europepmc   +1 more source

Telemedicine Gatekeeping Over 15,000 Patients from Specialist Consultation Waiting Lists: A Cost-Minimization Study. [PDF]

Telemed Rep
Pfeil JN, Roman R, Rados DRV, Umpierre RN, de Oliveira MG, Etges APBDS, da Silva RS, Katz N, Mattiello R, Harzheim E.   +9 more
europepmc   +1 more source