Results 1 to 10 of about 7,349 (206)

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder [PDF]

Frontiers in Neurology, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz, Marvin R. Natowicz   +5 more
doaj   +2 more sources

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls [PDF]

Frontiers in Genetics, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch   +4 more
doaj   +2 more sources

PENGARUH REFORMASI PENYUSUNAN ANGGARAN TERHADAP KUALITAS APBD KOTA SEMARANG

Jurnal Dinamika Akuntansi, 2009
Tujuan dari penelitian ini adalah untuk mendapatkan bukti empiris dampak akuntabilitas publik, partisipasi publik, transparansi publik dan pendekatan kinerja APBD terhadap kualitas APBD di KAbupaten Semarang.
Bestari Dwi Handayani
doaj   +3 more sources

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7 [PDF]

Frontiers in Genetics
IntroductionAdult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene.
Juan Zhu, Hong-Ping Yu, Jing Zou, Yi-Wu Zhang, Xin-Qi Han, Zi-Yan Xu, Li Chen, Qian Chen, Mei-Zhu Gao, Li-Jun Xie, Xi-Kui Zhang, Jie-Wei Luo, Yun-Fei Li, Yun-Fei Li, Li Zhang   +14 more
doaj   +2 more sources

A United States-based patient-reported adult polyglucosan body disease registry: initial results [PDF]

Therapeutic Advances in Rare Disease
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene.
Jacy Sparks, Francesco Michelassi, John L. P. Thompson, Richard Buchsbaum, Natacha Pires, Janet T. DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano   +9 more
doaj   +2 more sources

REFORMASI PENYUSUNAN ANGGARAN DAN KUALITAS ANGGARAN PENDAPATAN DAN BELANJA DAERAH (APBD)

Jurnal Dinamika Akuntansi, 2009
Penelitian ini bertujuan untuk membuktikan secara empiris pengaruh akuntabilitas publik, partisipasi masyarakat, transparansi publik dan APBD pendekatan kinerja terhadap kualitas APBD di Kabupaten Semarang.
Jurica Lucyanda, Maylia Pramono Sari
doaj   +3 more sources

DUTIES AND AUTHORITIES OF THE REGIONAL REPRESENTATIVES (DPRD) IN THE IMPLEMENTATION OF BUDGET FUNCTION ON THE REGIONAL REVENUE AND EXPENDITURE BUDGET (APBD) OF CENTRAL JAVA PROVINCE

BAKI (Berkala Akuntansi dan Keuangan Indonesia), 2020
This research discusses the Duties and Authorities of the Regional People's Representative Council (DPRD) particularly in budgeting function, the obstacles, and efforts to overcome these problems. This paper uses a qualitative case study.
Avitta Karunia Dewi
doaj   +1 more source

PELAKSANAAN FUNGSI PENGAWASAN APBD OLEH DPRD KABUPATEN KERINCI PERIODE 2015-2016

Unes Journal of Swara Justisia, 2019
APBD merupakan dasar pengelolaan keuangan daerah dalam satu tahun anggaran. APBD merupakan rencana pelaksanaan semua Pendapatan Daerah dan semua Belanja Daerah dalam rangka pelaksanaan Desentralisasi dalam tahun anggaran tertentu.
Asrizal S
doaj   +1 more source

Analisis Proses Politik Pembahasan dan Penetapan Anggaran Pendapatan dan Belanja Daerah (APBD) Provinsi Riau Tahun Anggaran 2016

Nakhoda: Jurnal Ilmu Pemerintahan, 2017
The process of preparing a work programs of regional goverments is an integral part of the state financial system which assosiated with establishment of APBN and APBD.
Rury Febrina, Isril
doaj   +3 more sources

ANALISIS ALOKASI ANGGARAN PENDIDIKAN DALAM ANGGARAN PENDAPATAN BELANJA DAERAH

Jurnal Administrasi dan Manajemen Pendidikan, 2018
Abstrak: Penelitian ini bertujuan untuk mengetahui anggaran pendidikan dalalam APBD tahun 2010-2015 di Kabupaten Ponorogo, menganalisis perkembangan anggaran pendidikan, dan mendeskripsikan proporsi alokasi anggaran pendidikan dengan belanja pegawai ...
Sri Citra Diah Nandani, Bambang Setyadin, Ahmad Nurabadi   +2 more
doaj   +1 more source