Results 61 to 70 of about 5,194 (193)

1526 Treating Tyrosinemia Type 1: Experience from Kuwait [PDF]

Archives of Disease in Childhood, 2012
Hereditary tyrosinemia type1 (HT1) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase. Untreated tyrosinemia type I usually presents either with severe liver involvement or later with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets.
S. Sadeq, H. B. Nakhi, N. A. Naqeeb
openaire   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

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

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, Volume 22, Issue 16, 17 March 2026.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

Nongenetic causes of hypertyrosinemia that must be considered when interpreting a finding of elevated urinary tyrosine

Revista de la Facultad de Medicina Humana, 2023
Mr. Editor. In several countries, newborns are screened for tyrosinemia type 1 using tyrosine as a primary marker. In some situations, elevated blood tyrosine levels are discovered due to elevated tyrosine on a urine metabolic screen.
Manuel André Virú-Loza
doaj   +1 more source

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder

American Journal of Ophthalmology Case Reports
Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2.
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz   +5 more
doaj   +1 more source

Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. [PDF]

, 1990
Results of liver transplantation in 10 patients with tyrosinemia are reviewed. The indications for transplantation were: hepatoma in three, acute liver failure in two, and progressive chronic liver disease in five. One patient died during surgery. Of the
Esquivel, CO, Koneru, B, Makowka, L, Mieles, L, Starzl, TE, Stieber, A, Todo, S, Tzakis, A, Van Thiel, D   +8 more
core  

Photoacoustic Microscopy for Multiscale Biological System Visualization and Clinical Translation

Advanced Science, Volume 13, Issue 9, 13 February 2026.
Photoacoustic microscopy (PAM) is a powerful biomedical imaging tool renowned for its non‐invasiveness and high resolution. This review synthesizes recent technological advances and highlights their broad applications from cellular and organ‐level to whole‐animal imaging.
Tingting Wang, Jiali Chen, Liming Nie, Honghui Li   +3 more
wiley   +1 more source

Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate

Journal of Inborn Errors of Metabolism and Screening, 2018
Hereditary tyrosinemia type 1 (HT1; OMIM 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.
Annik Simons MD, Francois Eyskens MD, PhD, Elien Raets, Inge Glazemakers PhD, Dirk van West MD, PhD   +4 more
doaj   +1 more source