Results 81 to 90 of about 16,591 (243)

How Different Patterns of Policy Attention Drive Policy Diffusion: Evidence From China's River Chief System

Policy Studies Journal, EarlyView.
ABSTRACT Despite extensive research on policy diffusion, the ways in which policy attention influences this process remain underexplored. This study addressed this gap by distinguishing between three types of policy attention—political speeches, policy issuance and field visits—and investigating their differential impacts when delivered by central and ...
Xiangning Chen, Yahua Wang
wiley   +1 more source

The financial and time burden associated with phenylketonuria treatment in the United States

Molecular Genetics and Metabolism Reports, 2019
Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose, Scott D. Grosse, Sandra P. Garcia, Janice Bach, Mary Kleyn, Norma-Jean E. Simon, Lisa A. Prosser   +6 more
doaj   +1 more source

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

International Journal of Cancer, Volume 159, Issue 2, Page 410-422, 15 July 2026.
What's new? Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic precursor to multiple myeloma, sharing substantial genetic features with overt malignancy. Given evidence implicating autophagy in myeloma risk, this study examined whether genetic variations in autophagy‐related genes influence MGUS susceptibility.
José Manuel Sánchez‐Maldonado, Angelica Macauda, Antonio José Cabrera‐Serrano, Hauke Thomsen, Murat Güler, Rob Ter Horst, Bethany van Guelpen, Pavel Vodicka, Stefano Landi, Subhayan Chattopadhyay, Pelin Ünal, Lucía Ruiz‐Durán, Delphine Casabonne, Hartmut Goldschmidt, Istemi Serin, María Carretero‐Fernández, Elena Cabezudo, Fernando Reyes‐Zurita, Aaron D. Norman, Ramón García‐Sanz, Gabriele Capurso, Per Hoffmann, Ulrika Pettersson‐Kymmer, Francisco Jiménez‐Romera, S. Vincent Rajkumar, Niels Weinhold, Ludmila Vodickova, Christian Langer, Angelika Stein, Abdulkadir Karismaz, Victor Moreno, Markus M. Nöthen, Karl‐Heinz Jöckel, Francesca Tavano, Joaquín Martínez‐López, Shaji K. Kumar, Juan Francisco Gutiérrez‐Bautista, Daniela Basso, Florentin Späth, Yolanda Benavente, Michelle A. T. Hildebrandt, Börge Schmidt, Tereza Sevcikova, Rui Manuel Vieira Reis, Yang Li, Miguel Ángel López‐Nevot, Mihai G. Netea, Daniele Campa, Alyssa Clay‐Gilmour, Susan L Slager, Kari Hemminki, Celine M Vachon, Asta Försti, Federico Canzian, Juan Sainz   +54 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Mapping the Severity of Phenylalanine Hydroxylase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema, E. M. van Steenis, C. M. A. Lubout, M. R. Heiner‐Fokkema, J. Zschocke, F. J. van Spronsen   +5 more
wiley   +1 more source

Alternative Therapies for PKU

, 2017
The phenylalanine (PHE)-restricted diet has improved in quality and diversity over time and has proven to be effective in all patients. Nevertheless, this treatment imposes a heavy social and economic burden to patient and family and impacts quality of ...
Ana Chiesa MD, Chiesa,Ana, Spécola,Norma, Norma Spécola MD   +3 more
core   +1 more source

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Molecular Genetics and Metabolism Reports, 2016
Background: Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase.
Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz   +7 more
doaj   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
wiley   +1 more source

Biochemical markers associated with executive function in adolescents with early and continuously treated Phenylketonuria (ECT-PKU)

, 2009
Debate continues as to whether executive function (EF), develop normally in children with PKU. Using a mixed model, we measured EF in ten adolescent children with PKU and six sibling controls, and examined associations between cognitive function and ...
Sharman, Rachael R., McGill, Jim, Sullivan, Karen A., Young, Ross McD.   +3 more
core   +1 more source

PERSEPSI PASIEN DARI KUALITAS LAYANAN DAN LAYANAN YANG DIINGINKAN (GAP ANALYSIS) : STUDI PERBANDINGAN PADA RUMAH SAKIT UMUM PKU MUHAMMADIYAH DI BANTUL DAN YOGYAKARTA

Jurnal Analisis Bisnis Ekonomi, 2017
This study examine about research atudy to compare service aualities in service company on hospitals, i.e., PKU Muhammadiyah Bantul hospital and PKU Muhmmadiyah Yogyakarta hospitals. The first research study, examine gap analysis (gap difference) between
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