Results 1 to 10 of about 704 (153)

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.
Hong-Ping Yu, Luo Jie-Wei, Yu Hong-Ping   +2 more
exaly   +4 more sources

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

Determinasi Transparansi APBDes Pada Kabupaten Karawang [PDF]

Jurnal Akuntansi: Kajian Ilmiah Akuntansi, 2020
Penelitian  ini  bertujuan  untuk  menguji  pengaruh perencanaan, pelaksanaan , pengawasan terhadap transparansi APBDes di kabupaten Karawang. Penelitian ini menggunakan tiga variable bebas (independent) dan variable terikat (dependent) , Variabel ...
Sri Suartini, Hari Sulistiyo, Syamsul Huda   +2 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

ANALISIS PERENCANAAN PENGANGGARAN APBD PEMERINTAH

Jurnal Lentera Bisnis
The purpose of this study is to determine and analyze the government's APBD budget planning. This research approach collects data through literature studies, which involve reading literature from various sources including books, reports, articles, and journals using qualitative and deductive approaches.
VÍCTOR Pattiasina, Ika Agustina
exaly   +2 more sources

KINERJA APBD KABUPATEN/KOTA DI SUMATERA SELATAN

Jurnal Ekonomi Pembangunan, 2008
This research aimed to see the sequence level of "Anggaran Pendapatan dan Belanja Daerah (APBD)” or local budget implementation based on effectiveness and efficiency, the growth of APBD, local finance capability indicators, and elasticity of local real ...
Didik Susetyo
doaj   +2 more sources

Korupsi APBD: Ekses Negatif Otonomi Daerah (Pentingnya Kebijakan Transparansi Pengelolaan Anggaran dalam APBD)

JKAP (Jurnal Kebijakan dan Administrasi Publik), 2015
This article tries to analyses the negative aspects of the impact of the implementation of decentralisation policy in Indonesia. The author argues that the ill-preparedness of the local governments to carryout the policy such as lack of qualified ...
Yana Karyana
doaj   +2 more sources

The Influence of APBD Plans and APBD Realization on Economic Growth (Empirical Study of Brebes Regency for the 2018-2022 Period)

QISTINA: Jurnal Multidisiplin Indonesia, 2023
This study aims to determine and analyze the effect of the APBD plan, realization. This study aims to determine and analyze the influence of the APBD plan, APBD realization on the economic growth of Brebes Regency. This research takes an empirical study in Brebes Regency in the 2018-2023 period.
Irna Roseniati, Anisa Sains Kharisma, Roni Roni   +2 more
openaire   +1 more source

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