Results 61 to 70 of about 11,515 (196)
Living with Phenylketonuria: Lessons from the PKU community
Molecular Genetics and Metabolism Reports, 2018 Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.
Suzanne Ford +2 more
doaj +1 more source
AI‐Enabled Automated Schistocyte Classification in Peripheral Blood for TMA Auxiliary Diagnosis
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Background Schistocytes are critical morphological markers for thrombotic microangiopathy (TMA) diagnosis. Manual identification is hampered by inconsistent standards and high interobserver variability, compromising accuracy. Although AI has advanced in hematology, AI‐enabled schistocyte classification remains under‐studied, creating a ...
Lei Shang +7 more
wiley +1 more source
Association between cardiometabolic risk factors cluster and all‐cause mortality in type 2 diabetes
Journal of Diabetes Investigation, EarlyView.ABSTRACT Objective To investigate the association between the cardiometabolic risk factors cluster (CRFC) and all‐cause mortality in type 2 diabetes (T2D). Methods Data from the Zhejiang Rural T2D Cohort (2016–2024) included 10,310 participants. Four cardiometabolic risk factors (CRFs) were evaluated: central obesity, elevated blood pressure, high ...
Qingfang He +5 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Junfei Cao +5 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl +2 more
wiley +1 more source
FinTech and Bank Efficiency in China: Evidence From a Dynamic Network Perspective
International Review of Finance, Volume 26, Issue 3, September 2026.ABSTRACT This paper examines whether and through which channels financial technology (FinTech) development improves the efficiency of commercial banks. We adopt a meso‐level perspective by measuring external FinTech exposure with two complementary indicators: industry‐level innovation intensity (FinTech‐related Bank Technology Development Awards) and ...
Lifang Li, Mengqi Ouyang, Fangming Xu
wiley +1 more source
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The Turkish Journal of Pediatrics, 1993 The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç +5 more
doaj
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1814-1820, August 2026.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 more
wiley +1 more source
LOW-PROTEIN PASTA FOR CHILDREN PATIENTS WITH PHENYLKETONURIA
Пищевые системы, 2019 There are provided data on the work carried out at All-Russian Research Institute for Starch Products to create enriched low-protein pasta based on starch for nutrition the children sick with a phenilketonuria — a hereditary disease (group of ...
S. T. Bykova, T. G. Kalinina
doaj +1 more source