Results 151 to 160 of about 48,194 (317)
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT The current cornerstone of the management of many small‐molecule inborn errors of metabolism (IEMs) is a combination of dietary therapy and medication, with evidence for improved clinical outcomes. However, the burden imposed on patients and families is substantial.
A. Selvanathan +7 more
wiley +1 more source
The influence of phenylketonuric (PKU) heterozygote on the development of foetus [PDF]
, 1979 B Cabalska, J Borzymowska, N Duczyska
openalex +1 more source
An overview of current prenatal genetic screening and diagnosis guidelines
Pregnancy, Volume 1, Issue 3, May 2025.Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli +3 more
wiley +1 more source
CIRCADIAN PLASMA GH CONCENTRATIONS IN CHILDREN WITH PHENYLKETONURIA (PKU), HYPERPHENYLALANINEMIA (H), CYSTINOSIS (C) AND HOMOCYSTINURIA (HU) [PDF]
, 1977 H Schedewie +3 more
openalex +1 more source
To Understand the UV-optical Excess of RX J1856.5-3754 [PDF]
arXiv, 2005 The enigma source, RX J1856.5-3754, is one of the so-called dim thermal neutron stars. Two puzzles of RXJ1856.5-3754 exist: (1) the observational X-ray spectrum is completely featureless; (2) the UV-optical intensity is about seven times larger than that given by the continuation of the blackbody model yielded by the X-ray data.
arxiv
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
Thoracic Cancer, Volume 16, Issue 9, May 2025.The pathological lymph node response provides additional prognostic information and contributes to more accurate risk stratification of NSCLC in the context of neoadjuvant immunotherapy. Radiological and metabolic evaluation methods are ineffective for detecting tumor residuals in mLNs.
Tianxiao Han +10 more
wiley +1 more source
Molecular Genetics and Metabolism ReportsBackground: Phenylketonuria (PKU) is an inherited metabolic disease. If left untreated, it can lead to severe irreversible intellectual disability and can cause seizures, behavior disturbance, and white matter disease.
Jean-Baptiste Arnoux +7 more
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Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease
CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He +4 more
wiley +1 more source
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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