Results 61 to 70 of about 4,682 (148)

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

Patient-reported outcomes in Gaucher's disease: a systematic review. [PDF]

Orphanet J Rare Dis, 2023
Feng J, Gao Z, Shi Z, Wang Y, Li S.
europepmc   +1 more source

Maternal and Fetal Outcomes in Imiglucerase‐Treated Patients With Gaucher Disease: Real‐World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
This graphical abstract highlight the real‐world maternal and fetal outcomes in imiglucerase‐treated patients with Gaucher disease from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry. ABSTRACT Untreated women with Gaucher disease (GD) are at an increased risk of GD‐related complications during pregnancy ...
Shoshana Revel‐Vilk, Patrick Deegan, Debra Day‐Salvatore, Ozlem Goker‐Alpan, Eugen Mengel, Julie L. Batista, Jenny L. Carwile, Gabriela Perichon, Can Ficicioglu   +8 more
wiley   +1 more source

Extensive cardiovascular involvement in a young boy with Gaucher's disease: a case report. [PDF]

Eur Heart J Case Rep, 2023
Naderian M, Khederlou H, Hosseinsabet A, Salarifar M.   +3 more
europepmc   +1 more source

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Gaucher's Disease in an Adult Female: A Rare Entity. [PDF]

Cureus, 2021
Kannauje PK, Pandit V, Wasnik PN, Gupta AK, Venkatesan N.   +4 more
europepmc   +1 more source

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #75: Evaluation and management of non‐immune hydrops fetalis

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM), Teresa. N. Sparks, Mary. E. Norton, SMFM Publications Committee   +3 more
wiley   +1 more source

Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. [PDF]

J Blood Med, 2021
Giraldo P, Andrade-Campos M.
europepmc   +1 more source

Enfermedad de Gaucher en Argentina: un informe del Registro Internacional de Gaucher y del Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher [PDF]

, 2013
La Enfermedad de Gaucher por su baja frecuencia está incluida dentro de las enfermedades huérfanas. En 1991 comenzó el ingreso de pacientes en el Registro Internacional de Gaucher. En 1992 se incorporaron los primeros dos pacientes de Latinoamérica.
Angaroni, Celia Juana, Annetta, I., Basack, Nora, Becerra, Adriana Berónica, Bolesina, M., Cuello, María Fernanda, Del Valle Oller, Ana María, Delgado, María Andrea, Dodelson de Kremer, Raquel, Dragosky, M., Drelichman, G., Elena, G., Feliu, A., Fernández Escobar, Nicolás, Fynn, Alcira, Giner Ayala, Alicia, Guelbert, Norberto Bernardo, Kohan, R., Larroudé, M., Masllorens, F., Oliveri, María Beatriz, Schenone, A., Sciuccati, Gabriela, Szlago, M., Veber, S. E., Watman, N.   +25 more
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