Results 1 to 10 of about 594 (89)

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives Maternal biliary disease is common, but the link with offspring hepatopancreatobiliary disease has not been studied. We assessed the association between maternal biliary disease and pediatric hepatopancreatobiliary morbidity. Methods We conducted a retrospective cohort study of 1,271,864 children born between 2006 and 2022 in Quebec,
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +2 more sources

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. [PDF]

JIMD Rep
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Crenshaw MM, Midgette Y, Mohan S, Wei R, Anneling M, Williams M, Patel M, Cocanougher BT, Young SP, Niyazov D, El-Gharbawy A, Stiles AR.   +11 more
europepmc   +2 more sources

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease. [PDF]

Ann Neurol
Objective Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M.   +27 more
europepmc   +2 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]

J Inherit Metab Dis
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Casazza K, Giugliani R, Regier DS, Jarnes J.   +3 more
europepmc   +2 more sources

Rare forms of nephrolithiasis

Pediatria i Medycyna Rodzinna, 2019
Inborn errors of metabolism that may lead to calculus formation within the urinary tract include: adenine phosphoribosyltransferase deficiency, xanthine oxidase deficiency, orotic aciduria (acidosis) type I and alkaptonuria.
Piotr Skrzypczyk, Małgorzata Pańczyk-Tomaszewska   +1 more
doaj   +1 more source

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Heliyon
Dihydroorotate dehydrogenase (DHODH) catalyzes the fourth enzymatic reaction of the pyrimidine biosynthesis pathway. Miller syndrome, also known as postaxial acrofacial dysostosis, is caused by biallelic pathogenic variants in DHODH. We present a patient
Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht   +7 more
doaj   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging

Cell Proliferation, Volume 58, Issue 8, August 2025.
Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi, Hengjie Wang, Shuai Zhu, Minjian Chen, Xuejiang Guo, Qiang Wang, Ling Gu   +6 more
wiley   +1 more source

Targeting miRNA‐1a and miRNA‐15b: A Novel Combinatorial Strategy to Drive Adult Cardiac Regeneration

Advanced Science, Volume 12, Issue 21, June 5, 2025.
The article explores a novel therapeutic strategy for cardiac regeneration by targeting miRNA‐1a and miRNA‐15b. Combinatorial inhibition of miR‐1a and miR‐15b enhances cardiomyocyte proliferation, improves heart function, and reduces fibrosis in myocardial infarction models.
Ting Yuan, Meiqian Wu, Chaonan Zhu, Hao Yu, Minh Duc Pham, Katharina Bottermann, Yijie Mao, Yue Wang, Mathias Langner, Mirko Peitzsch, Arka Provo Das, Silke Kauferstein, Jonathan Ward, Peter Mirtschink, Andreas Michael Zeiher, Stefanie Dimmeler, Jaya Krishnan   +16 more
wiley   +1 more source