Results 21 to 30 of about 1,229 (164)

Alterações auditivas e fenilcetonúria: uma revisão sistemática Hearing disorders and phenylketonuria: a systematic review

Revista CEFAC, 2010
TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini, Ana Lúcia Pimenta Starling, Cláudia Fernanda Tolentino Alves, Thaís Maria da Mata Martins, Maria Cecília Martinelli Iório   +4 more
doaj   +1 more source

Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]

SSRN Electronic Journal, 2019
Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire   +2 more sources

Achados audiológicos em crianças com fenilcetonúria Audiologic findings in children with phenylketonuria

Revista da Sociedade Brasileira de Fonoaudiologia, 2010
OBJETIVO: Investigar a existência de alterações na audição de crianças com fenilcetonúria diagnosticadas e tratadas precocemente e comparar os resultados com os encontrados nas avaliações auditivas de crianças normais de mesma idade.
Patrícia Cotta Mancini, Ana Lúcia Pimenta Starling, Letícia Macedo Penna, Camila Alexandra Vilaça Ramos, Michelle Imaculada Otaviani Ferreira, Maria Cecília Martinelli Iório   +5 more
doaj   +1 more source

Urinary neopterin concentrations vs total neopterins for clinical utility [PDF]

, 1989
Fuchs D, Milstien S, Krämer A, et al. Urinary neopterin concentrations vs total neopterins for clinical utility. Clinical Chemistry. 1989;35(12):2305-2307.Neopterin measurements are especially useful as an early marker in (e.g.) allograft rejections and ...
Werner, Ernst R., Kaufman, Seymour, Fuchs, Dietmar, Krämer, Alexander ; https://orcid.org/, Goedert, James J., Reibnegger, Gilbert, Milstien, Sheldon, Wachter, Helmut   +7 more
core  

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Segmented Therapeutic Delivery via Acoustic Microbubble Relay

Advanced Intelligent Systems, EarlyView.
An acoustically driven, modular segmented delivery system is presented to overcome mechanical limitations of conventional microcatheters. Oscillating microbubbles generate directional streaming that enables continuous, targeted transport across open, angled segments.
Lei Wang, Yiyang Tang, Yiqiang Wu, Xin Zhang, Tianshi Lyu, Zhen Hua, Tian‐Yun Huang   +6 more
wiley   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Photoreversible Polyurea Actuators With Spatiotemporal Control and Adaptive Mechanics

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
A light–thermal responsive polyurea network incorporating reversibly dimerizable anthracene units enables spatiotemporal modulation of cross‐linking density and nearly 400‐fold stiffness tuning. Integrating programmable anisotropy, photopatterning, self‐healing, and photowelding within a single framework, this bioinspired “one network–multifunction ...
Zhiwen Song, Wang Li, Xinru Guo, Rui Pu, Wenxin Wang, Yujun Cheng, Liang Shen, Fei Gao   +7 more
wiley   +1 more source

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

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