Results 131 to 140 of about 7,349 (206)

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Characterization of cognitive impairment in adult polyglucosan body disease. [PDF]

J Neurol, 2022
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M.   +7 more
europepmc   +1 more source

Disparities in cancer care and outcomes by insurance membership type in Indonesia: a retrospective cross-sectional analysis of national health insurance claims, 2017-2022. [PDF]

BMJ Open
Darmawan ES, Hasibuan SR, Permanasari VY, Kusuma D.   +3 more
europepmc   +1 more source

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models. [PDF]

Neurotherapeutics, 2022
Gumusgoz E, Kasiri S, Guisso DR, Wu J, Dear M, Verhalen B, Minassian BA.   +6 more
europepmc   +1 more source

Faktor - Faktor Yang Melatarbelakangi Keterlambatan Penetapan Anggaran Dan Belanja Daerah (APBD) Di Kabupaten Blora Tahun 2014

, 2017
SIAnggaran Pendapatan dan Belanja Daerah (APBD) adalah rencana keuangan tahunan Pemerintah Daerah yang disetujui oleh Dewan Perwakilan Rakyat Daerah. APBD ditetapkan dengan Peraturan Daerah.
Sulistyowati, S. (Sulistyowati), Lindawati, S. (Septika), Adhi, S. (Soewanto)   +2 more
core  

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. [PDF]

Nucleic Acids Res
Thomas R, Miyoshi E, Akman HO, Storz SHR, Goffena J, Pytte J, Miller DE, Skourti-Stathaki K, Crooke ST.   +8 more
europepmc   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism. [PDF]

EMBO Mol Med, 2021
Kakhlon O, Vaknin H, Mishra K, D'Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da'adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M.   +21 more
europepmc   +1 more source

An exchangeable SIM probe for monitoring organellar dynamics of necrosis cells and intracellular water heterogeneity in kidney repair. [PDF]

Proc Natl Acad Sci U S A
Lai Y, Zhang T, Huang L, Klymchenko AS, Lin W.   +4 more
europepmc   +1 more source

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency. [PDF]

Brain, 2022
Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA.   +20 more
europepmc   +1 more source

KEBERPIHAKAN APBD PEMERINTAH KABUPATEN JEMBER BIDANG KESEHATAN TAHUN 2011-2013

, 2017
Penelitian ini bertujuan mendiskripsikan keberpihakan APBD Pemerintah Kabupaten Jember Bidang Kesehatan Tahun 2011-2013. Anggaran Pendapatan dan Belanja Daerah (APBD) adalah rencanan keuangan tahunan pemerintah daerah yang disetujui oleh Dewan Perwakilan
Aziz, M. Ananda Abdul
core