Results 61 to 70 of about 18,914 (186)

Measurement of Neopterin and Biopterin in Urine from Phenylketonuria Heterozygotes and Normal Controls

Pteridines, 1991
The effect of an oral load of phenylalanine (100 mg/kg body weight) on the levels of neopterin and biopterin in urine has been determined in 8 heterozygotes for classical phenylketonuria and 25 supposed normal controls. In basal conditions, neopterin and
Ruiz-Vázquez P., Bel Y., Garcia A. M., Cabello M. L., Dalmau J., Alós T., Catalá J. L., Ferré J.   +7 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, Chao Fang, Dongshuo Li, Xuesong Wang, Jiani Yu, Yunchu Cui, Jingliang Chen, Xuekai Liu   +7 more
wiley   +1 more source

Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria

BMC Nursing
Introduction Nurses play a crucial role in the primary prevention of phenylketonuria (PKU) within national screening programs for newborns. This is achieved through consult with the child’s provider promptly to arrange a PKU test, accurate collection of ...
Esraa Mohammed Abd El-Samie Ismail, Wafaa Mohamed Elarousy, Shaymaa Saeed Mohamed Badawe, Rasha Mohamed Abohadida   +3 more
doaj   +1 more source

Socialization of a patient with late-diagnosed classical phenylketonuria. Case report

Consilium Medicum
Classical phenylketonuria (PKU) is a group of autosomal recessive disorders characterized by hyperphenylalaninemia. Phenylketonuria is hyperphenylalaninemia caused by a deficiency of phenylalanine hydroxylase, leading to the accumulation of phenylalanine
Elena V. Proskurina, Olga P. Sidorova
doaj   +1 more source

A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

The Turkish Journal of Pediatrics, 2016
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients.
Betül Mazlum, Banu Anlar, H Serap Kalkanoğlu-Sivri, Kader Karlı-Oğuz, Şeniz Özusta, Fatih Ünal   +5 more
doaj   +1 more source

School achievement in pupils with phenylketonuria

, 2020
The diploma thesis called "School Achievement in Pupils with Phenylketonuria" tries to outline the lives of people who have to face up to a hereditary metabolic disorder - phenylketonuria, subjective and objective level of school success of these ...
NENADÁLOVÁ, Lucie
core  

Chronic Health Condition Trajectories and Multimorbidity in Older Adults With Intellectual Disability: A Brief Report of 15 years of Longitudinal Evidence From IDS‐TILDA

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Adults with intellectual disability experience significant health issues that increase with age. Longitudinal analyses offer important evidence on how the trajectories of these conditions' develop and change. Methods Data were drawn from five waves of IDS‐TILDA, with a nationally representative sample of over 700 adults with ...
Martin McMahon, Aviejay Paul, Catriona Ryan, Louise Lynch, Philip McCallion, Mary McCarron, Eilish Burke   +6 more
wiley   +1 more source

Phenylketonuria

, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene.
van Spronsen, Francjan J, Levy, Harvey L, Blau, Nenad; https://orcid.org/, Nenad Blau, Levy HL, van Spronsen FJ, Blau N, Francjan J van Spronsen, Harvey L Levy   +8 more
core   +1 more source

Toward “Obesityomics”: Domain‐Specific Omics in Precision Obesity Medicine with a Brief AI Perspective

Obesity Reviews, EarlyView.
ABSTRACT Background Obesity's global rise has outpaced the effectiveness of “one‐size‐fits‐all” prevention and treatment strategies. The promise of precision medicine lies in addressing the etiological and biological diversity of obesity and transforming it into actionable endotypes.
Nadia Abu Samra, Sara G. I. Suliman, Mohammed Al‐Hadad, Dorret I. Boomsma, Fadwa Alhantoobi, Maithah Alsamahi, Haneen Abufarajallah, Alia Al Tikriti, Zeyar Aung, Selena Richards, Abdulrahim Sajini, Mira Mousa, Fatima Sulaiman, Wael Osman   +13 more
wiley   +1 more source