Results 21 to 30 of about 400 (136)

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Policy Responses to the COVID‐19 Pandemic in High‐Income Countries and the Associated Maternal‐Infant Health Outcomes: A Systematic Literature and Policy Review

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Foreseeing how policy impacts pregnant women and infants is limited by ethical challenges of experimental research within these groups. The COVID‐19 pandemic generated natural experiments, offering rare opportunities to explore associations between specific policy responses and maternal‐infant health outcomes.
Ashleigh Shipton, Katie Mcbain, Melissa Wake, Sharon Goldfeld, Fiona Mensah   +4 more
wiley   +1 more source

Traveller mothers: Obstetric and neonatal outcomes in an Irish maternity unit

International Journal of Gynecology &Obstetrics, Volume 173, Issue 2, Page 861-867, May 2026.
Abstract Objective Travellers' ethnicity was only formally acknowledged by the Irish State in 2017. They experience persistent racism and discrimination, resulting in poorer outcomes in terms of health, education, employment, and accommodation. Previous studies have reported higher rates of infant mortality and stillbirths among Traveller mothers. This
Nessa Hughes, Stephen W. Lindow, Lynsey Kavanagh, Barbara Burke, Lyndsay Creswell, Emma McNamee, Mark P. Hehir, Michael P. O'Connell   +7 more
wiley   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Report of the Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) on Hereditary Fructose Intolerance (HFI), or aldolase B deficiency, and fructose malabsorption (intestinal fructose intolerance)

Food Risk Assess Europe, Volume 4, Issue 2, April 2026.
Abstract Hereditary Fructose Intolerance (HFI), also known as aldolase B deficiency, is an inherited metabolic disorder caused by the deficiency of that enzyme, which participates in the fructose metabolism in the liver, kidneys and small intestine. Aldolase B deficiency brings about the accumulation of fructose‐1‐phosphate in these organs, which can ...
Araceli Díaz Perales, Irene Bretón Lesmes, Ángel Gil Izquierdo, Gema Nieto Martínez, Silvia Pichardo Sánchez, María de Cortes Sánchez Mata, María Ángeles Carlos Chillerón   +6 more
wiley   +1 more source

Non‐Syndromic Paucity of Interlobular Bile Ducts (NSPIBD) Presenting as Neonatal Cholestasis in an Infant With Down Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Non‐syndromic paucity of interlobular bile ducts (NSPIBD) is a rare cause of neonatal cholestasis, often presenting with clinical features similar to extrahepatic biliary atresia. This report presents a case of NSPIBD in an infant with Down syndrome who exhibited jaundice and pale stools.
Pui Ling Thong, Nurfirdaus Musa, Nurul Husna Mohd Dani, Zurina Zainuddin   +3 more
wiley   +1 more source

A Rare Case of Conjunctival and Scleral Necrosis Following Anterior Sub‐Tenon Triamcinolone Acetonide Injection in a Pediatric Patient

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT The sub‐Tenon route for injecting triamcinolone acetonide is one of the widely practiced surgical techniques for postoperative inflammation control, but complicated conjunctival and scleral necrosis are rare occurrences. A 3‐year‐old boy underwent bilateral cataract surgery and an anterior sub‐tendon injection of triamcinolone (AST) (20 mg ...
Muhammad Mateen Amir, Minahal Mateen, Bilal Aslam, Shafiq Ur Rahman, Fazeela Bibi, Khalil El Abdi, Said Hamid Sadat   +6 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