Results 41 to 50 of about 3,232 (144)

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

Cell Reports, 2017
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer   +2 more
doaj   +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

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +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