Results 101 to 110 of about 36,719 (231)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Elucidating the Molecular Mechanisms of Vitex negundo L. in Polycystic Ovary Syndrome via Metabolomics‐Driven Network Pharmacology

Biomedical Chromatography, Volume 40, Issue 9, September 2026.
ABSTRACT Polycystic ovary syndrome (PCOS) is a hormonal disorder marked by irregular menstrual cycles, elevated androgen levels, ovarian cysts, hirsutism, acne and other symptoms. While conventional medications such as Metformin and Spironolactone are commonly prescribed, they are often associated with undesirable side effects.
Nishmitha R. Poojary, Neeharika Narisepalli Venkatasai, Kannath U. Sanjay, Supraja M. Kodanch, Padmalatha S. Rai   +4 more
wiley   +1 more source

Potential Involvement of Redox and Inflammatory Signalling in the Antihyperglycemic and Antioxidant Effects of Harmaline in Male Mice With Type 2 Diabetes

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
HAR may improve T2DM by enhancing antioxidant defences through Nrf2 activation while suppressing inflammation and RAS activity, supporting its capability to treat diabetes. ABSTRACT Introduction Type 2 diabetes mellitus (T2DM) is strongly associated with oxidative stress and inflammation.
Farima Malekinia, Akram Ahangarpour, Khojasteh Hoseinynejad, Seyyed Ali Mard, Maryam Radan, Fereshteh Nejaddehbashi   +5 more
wiley   +1 more source

Challenges in Managing Pregnancy in Patients With Fructose 1, 6‐Bisphosphatase Deficiency: A Single‐Centre Experience

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Fructose‐1,6‐bisphosphatase deficiency is a rare inherited metabolic disorder of gluconeogenesis characterized by recurrent hypoglycemia and lactic acidosis, typically triggered by inadequate glucose intake or increased consumption of fructose, sucrose, or sorbitol.
Raashda A. Sulaiman, Ibrahim Alqasir, Dana Alqasabi, Ruqaiah AlTassan, Maha Tulbah, Maha Alnemer, Mohamed Al‐Owain   +6 more
wiley   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, Freya Hassall, James Nurse, Hugh Lemonde, R. Neil Dalton, Michael Champion   +7 more
wiley   +1 more source

Nanoparticle‐Mediated Therapy for Glioma: Advances and Prospects

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Various nanocarriers, including liposomes, dendrimers, exosomes and gold nanoparticles, are designed to penetrate the blood‐brain barrier and deliver chemotherapy, radiotherapy, immunotherapy, gene therapy, phototherapy, magnetic hyperthermia and sonodynamic therapy for glioma.
Wenqian Jiang, Jing Fei, Rangrang Fan, Haifeng Chen, Liangxue Zhou, Gang Guo   +5 more
wiley   +1 more source

Carbon Dots for Cancer Theranostics: Synthesis Strategies, Luminescence Properties, and Advances in Bioimaging‐Guided Diagnosis and Therapy

Chemistry – A European Journal, Volume 32, Issue 30, 13 August 2026.
Lighting up the path to precision oncology: This review comprehensively summarizes the rational design of carbon dots (CDs), elucidating how core size, surface chemistry, and heteroatom doping dictate their luminescence mechanisms. Special emphasis is placed on engineering NIR‐II emissive CDs for deep‐tissue imaging.
Zekun Yan, Yupeng Liu, Jinyun Tan, Songnan Qu   +3 more
wiley   +1 more source

Three‐Dimensional Biomimetic Aerogel Conduits with Electro‐Ionic‐Immune Coupling Reverse the Pathological Cascade of Spinal Cord Injury

Advanced Functional Materials, Volume 36, Issue 63, 6 August 2026.
A biomimetic aerogel conduit was engineered from a nanofiber of gelatin/poly(l‐lactic acid) doped with polypyrrole nanoparticles, integrated with tannic acid and Mg2+. This “electro‐ionic‐immune” strategy mimicked spinal cord properties, reduced calcium overload, inflammation, oxidative damage, promoted neural stem cell differentiation, suppressed ...
Qingxiang Liu, Xin Yu, Jingtong Li, Chunyang Zheng, Yukang Zhang, Mingyu Jia, Tan Tian, Weiwei Zheng, Pinghui Zhou, Yingji Mao   +9 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source