Results 51 to 60 of about 30,878 (268)

Transendocardial injection of expanded autologous CD34+ cells after myocardial infarction: Design of the EXCELLENT trial

ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.
Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli, François Roubille, Nicolas Meyer, Giulio Pompilio, Lionel Leroux, Philippe Henon, Guillaume Trebuchet, Anthony Criquet, Matthieu de Kalbermatten, Eric Saloux, Alain Manrique, Pierre‐Yves Marie, Deepak L. Bhatt, Scott D. Solomon, Gilles Montalescot, David E. Newby, Faiez Zannad, on behalf of the EXCELLENT Trial Investigators   +17 more
wiley   +1 more source

Spatial pattern of phenylketonuria disease determination using geographic information system in Lorestan province from 2006 to 2016 [PDF]

International Journal of Biomedicine and Public Health, 2018
Introduction: Phenylketonuria(PKU) is a metabolic disorder that, if not detected and treated promptly, causes mental retardation. The use of the geographic information system (GIS) in favor of spreading the disease helps to control the disease. Therefore,
Zaher Khazaei, Yousef Moradi, Golnaz Sharifnia, Mojgan Navabi, Malihe Sohrabivafa, Elham Goodarzi   +5 more
doaj   +1 more source

Phenylketonuria: Protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine [PDF]

, 2014
Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the ...
Almeida, Manuela F., Alves, Rita C., Costa, Anabela S. G., Oliveira, M. Beatriz P. P., Pimentel, Filipa B., Torres, Duarte   +5 more
core   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism [PDF]

, 2009
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998.
ANASTÁCIO-PESSAN, Fernanda da Luz, FERREIRA, Amanda Tragueta, GEJÃO, Mariana Germano, LAMÔNICA, Dionísia Aparecida Cusin, SILVA, Greyce Kelly   +4 more
core   +3 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

NEWBORN SCREENING FOR RARE DISEASES IN THE NORTH-EAST PART OF ROMANIA: RESULTS OF THE NEWBORN SCREENING PROGRAM 2009-2012 [PDF]

Romanian Journal of Pediatrics, 2013
Objective. To evaluate the Newborn Screening Program for rare diseases – congenital hypothyroidism (CH) and phenylketonuria (PKU) – in the north-east part of Romania from 2009 to 2012. Methods.
Dana-Teodora Anton-Paduraru, Maria-Liliana Iliescu   +1 more
doaj   +1 more source

The Role of Proteins in the Sensory Perception/Organoleptic Properties of Food

Food Chemistry International, EarlyView.
Protein structure controls sensory attributes such as flavor, texture, and aroma. This can occur during amino acid breakdown, Maillard reactions and lipid–protein interactions which generate flavor profiles. Bioactive peptides also provide taste and health benefits.
Tharuka Wijesekara, Idaresit Ekaette
wiley   +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

The ethics of genetic research on intelligence [PDF]

, 2000
Should research on the possible genetic components of human intelligence be carried out? I first try to provide some general guidelines as to whether any particular piece of research should be undertaken and then consider the specific example of the ...
Reiss, Michael
core   +2 more sources