Results 41 to 50 of about 27,934,643 (129)

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue

, 1999
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with ...
Saheki, T, Scherer, SW, Sinasac, DS, Crackower, MA, Kobayashi, K, Tsui, LC, Lee, JR   +6 more
core   +1 more source

The Role of Urea Cycle Functional Studies in Preclinical Research

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum. Current biochemical diagnostics largely rely on quantification of metabolites. While indispensable for diagnosis and acute management,
Nathan Breuillard, Nadia Zürcher, Erica Faccin, Kim L. Stocker, Martin Poms, Johannes Häberle   +5 more
wiley   +1 more source

SARS CoV2 infection in a young subject affected by arginosuccinate synthase deficiency: A case report of epilepsy worsening [PDF]

, 2021
We describe a case of a 21 years old woman affected by Citrullinemia type 1- Arginosuccinate Synthase deficiency (ASSD)-who underwent a SARS CoV2 infection during the first phase of pandemic burst in Italy.
Vitturi N., Lenzini L., Francini-Pesenti F., Gugelmo G., Avogaro A., G. Gugelmo, N. Vitturi, L. Lenzini, A. Avogaro, F. Francini-Pesenti   +9 more
core   +1 more source

Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II, John Barber, Chaya N. Murali, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerald Berry, Susan A Berry, Margo Breilyn, Gregory Enns, Can Ficicioglu, Renata C. Gallagher, Andrea Gropman, Cary O. Harding, Georg Hoffman, Laura Konczal, Christina Lam, Cynthia Le Mons, Shawn E. McCandless, Sandesh CS Nagamani, Roland Posset, Andreas Schulze, Jennifer Seminara, Tamar Stricker, Derek Wong, Greta Wilkening   +25 more
wiley   +1 more source

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Molecular Genetics and Metabolism Reports, 2018
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly ...
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C. Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F. Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi   +17 more
doaj   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Table1_Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.DOCX

, 2023
Background: Citrullinemia type I (CTLN1) is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the gene encoding the arginosuccinate synthetase (ASS1) enzyme.
Wanglan Tang (14771110), Wenxian Yu (16506870), Zhongjie Wang (353591), Yanling Teng (150096), Desheng Liang (9854), Jing Liu (38537), Zhuo Li (165589), Lingqian Wu (165613), Na Ma (170078), Ying Peng (26452), Hui Xi (1538161), Huiming Yan (2373979), Qingxin Shi (14143320), Jing Chen (4762)   +13 more
core   +1 more source

High Intrahepatic cccDNA in Resolved HBV Infection: Insights From Living Donor Liver Transplantation With Anti‐HBc‐Positive Grafts

Journal of Gastroenterology and Hepatology, Volume 41, Issue 4, Page 1335-1341, April 2026.
ABSTRACT Aim In hepatitis B surface antigen (HBsAg)‐negative recipients with antibody to hepatitis B core antigen (anti‐HBc)‐positive liver grafts, hepatitis B virus (HBV) can be reactivated under post‐transplant immunosuppression. We recently reported a median intrahepatic covalently closed circular DNA (cccDNA) level of 238 copies/μg in HBsAg ...
Sung Kwan Bae, Nobuhisa Akamatsu, Akihiko Ichida, Yujiro Nishioka, Yoshinori Inagaki, Nozomi Miyake, Takeshi Takamoto, Yoshikuni Kawaguchi, Sumihito Tamura, Junichi Arita, Junichi Kaneko, Motoyuki Otsuka, Yasuhito Tanaka, Hiroshi Yotsuyanagi, Kyoji Moriya, Kiyoshi Hasegawa   +15 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

Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Yasamin Dehghan, Mozhdeh Sepaskhah
wiley   +1 more source