Results 31 to 40 of about 400 (136)

Resultados del programa de pesquisaje neonatal de errores innatos del metabolismo en Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la pesquisa de diversas enfermedades neonatales tiene importancia para la salud pública. La detección precoz y el tratamiento de las enfermedades metabólicas disminuyen los indicadores de morbilidad y mortalidad, permitiendo mejorar la ...
Madelin Rodríguez Cruz, Maidelina Cardoso Paredes, Sonia Iris Hipolit Fernández   +2 more
doaj  

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Surgical Management of Congenital Lung Malformations in Children—A Single‐Center Analysis of 25 Years of Experience

The Clinical Respiratory Journal, Volume 20, Issue 2, February 2026.
Early diagnosis and intervention are critical for improving prognosis in children with congenital lung malformations (CLM). Fetal diagnosis of CLM generally leads to favorable outcomes; however, there is limited evidence on the effectiveness of fetal therapy in improving outcomes for these anomalies.
Patrycja Sosnowska‐Sienkiewicz, Alicja Kamińska, Przemysław Mańkowski, Irena Wojsyk‐Banaszak, Danuta Januszkiewicz‐Lewandowska   +4 more
wiley   +1 more source

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review. [PDF]

Int J Mol Sci, 2023
Tummolo A, Carella R, De Giovanni D, Paterno G, Simonetti S, Tolomeo M, Leone P, Barile M.   +7 more
europepmc   +1 more source

Secondary Reporting of G6PD Deficiency on Newborn Screening. [PDF]

Int J Neonatal Screen, 2023
Hoang SC, Blumenschein P, Lilley M, Olshaski L, Bruce A, Wright NAM, Ridsdale R, Christian S.   +7 more
europepmc   +1 more source

Galactosemia: Towards Pharmacological Chaperones. [PDF]

J Pers Med, 2021
Banford S, McCorvie TJ, Pey AL, Timson DJ.   +3 more
europepmc   +1 more source

Galactosemia

Anales de Pediatría, 2011
J, Díaz Ruiz, A, Cordón Martínez, J, López López, A, Jurado Ortiz   +3 more
openaire   +3 more sources

Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues. [PDF]

J Biol Methods, 2021
Brophy ML, Murphy JE, Bell RD.
europepmc   +1 more source

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report. [PDF]

Medicina (Kaunas), 2023
Rosca I, Turenschi A, Nicolescu A, Constantin AT, Canciu AM, Dica AD, Bratila E, Coroleuca CA, Nastase L.   +8 more
europepmc   +1 more source