Results 131 to 140 of about 42,298 (257)

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 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

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Journal of Inflammation Research, 2018
Danielle M Dunlea, Laura T Fee, Thomas McEnery, Noel G McElvaney, Emer P Reeves Irish Centre for Genetic Lung Disease, Department of Medicine, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland Abstract: Alpha-1 antitrypsin (AAT) is
Dunlea DM, Fee LT, McEnery T, McElvaney NG, Reeves EP   +4 more
doaj  

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch, Alison Woodall, Charlotte Dawson, Philip Newsome, Maria Veiga‐da‐Cunha, Karolina M. Stepien   +5 more
wiley   +1 more source

Early Cancer Detection: What's Going on and What's Next

MedComm, Volume 7, Issue 3, March 2026.
Multicancer early detection (MCED) platforms have emerged as a promising strategy for the safe and effective early detection of multiple cancer types, with the potential to reduce metastatic burden and improve clinical outcomes, particularly for aggressive malignancies that lack effective population‐level screening.
Emma Di Carlo
wiley   +1 more source

Portacaval shunt in three children with alpha‐1‐antitrypsin deficiency and cirrhosis: 9 to 12⅓ years later [PDF]

, 1990
Busuttil, RW, Pichlmayr, R, Porter, KA, Starzl, TE   +3 more
core   +1 more source

Plasma Proteomic Signatures of Pediatric Sepsis Reveal Persistent Inflammation and Phase‐Specific Biomarkers

FASEB BioAdvances, Volume 8, Issue 3, March 2026.
We enrolled a pediatric sepsis cohort at acute and recovery phases for plasma proteomics analysis. Abundantly expressed proteins in sepsis were identified and subjected to machine learning. In addition, the data was compared to adult sepsis and sterile inflammation.
Fahd Alhamdan, Yi‐Cheng Sin, Erik Malm, Hanna Van Pelt, Samuel Kim, LeeAnn Higgins, Yue Chen, Koichi Yuki   +7 more
wiley   +1 more source

Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency

Respiratory Medicine Case Reports
Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. Extrapulmonary manifestations of this disease have been reported, including vascular aneurysms.
Mark A. Colantonio, Sanjana Aggarwal, Himanshu Deshwal   +2 more
doaj   +1 more source