Results 11 to 20 of about 1,288 (135)

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

Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]

, 2001
This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz, Joana Pinto, António S. Barros, Elisabete Morais, Daniela Duarte, Fátima Negrão, Cristina Pita, Maria do Céu Almeida, Isabel M. Carreira, Manfred Spraul, Ana M. Gil, Pinto J., Benjamini Y., Morelli L.   +13 more
core   +3 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

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 Rapid and Specific Method for Separation of Bound and Free Antigen in Radioimmunoassay Systems [PDF]

, 1979
Peer ...
Müller, O. A., Scriba, Peter Christian, Stalla, G., Wood, W. G.   +3 more
core   +2 more sources

Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation [PDF]

, 2023
Glomerular filtration rate (GFR) is commonly used in clinical practice for the diagnosis and follow-up of chronic kidney disease. Screening for inborn errors of metabolism (IEM) is based on analysis of biomarkers in urine, reported by their ratio to ...
Bjerre, Anna Kristina, Bliksrud, Yngve Thomas, Brun, Atle, Flemmen, Per Tryggve Kjelland, Mørkrid, Lars, Salvador, Cathrin Lytomt, Tsui, Ellen Fun Fong, Tøndel, Camilla   +7 more
core   +1 more source

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences [PDF]

, 2017
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment ...
Alhaddad, B, and additional individual contributors, ., Botto, LD, Chen, MA, Colombo, R, Coughlin, CR, Descartes, M, Grűnewald, S, Kluijtmans, LA, Maranda, B, Mills, PB, Pai, EF, Pitt, J, Pontoglio, A, Potente, C, Rodenburg, R, Sampath, S, Tiller, GE, Wevers, RA, Wortmann, SB, Yuzyuk, T   +20 more
core   +4 more sources

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening [PDF]

, 2021
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass ...
Alonso, Laura, Argudo-Ramírez, Ana, Arranz Amo, Jose Antonio, Català-Besa, Mireia, Colobrán Oriol, Roger, Garcia Prat, Marina, García Villoria, Judit, la Marca, Giancarlo, Martín-Nalda, Andrea, Martínez Gallo, Mónica, Marín Soria, Jose Luis, Parra-Martínez, Alba, Rivière, Jacques G., Soler-Palacín, Pere   +13 more
core   +4 more sources

Dihydroorotate dehydrogenase : new insights into an old target [PDF]

, 2020
Purine and pyrimidine nucleotides are important for both biosynthetic and regulatory pathways in cells. As constituents of the DNA and RNA molecules, the requirements for nucleotides in actively dividing cells are increased.
Popova, Gergana
core   +1 more source

A quantitative screen for metabolic enzyme structures reveals patterns of assembly across the yeast metabolic network. [PDF]

, 2019
Despite the proliferation of proteins that can form filaments or phase-separated condensates, it remains unclear how this behavior is distributed over biological networks. We have found that 60 of the 440 yeast metabolic enzymes robustly form structures,
Begovich, Kyle, Broyer, Risa, Monfort, Elena, Noree, Chalongrat, Samilo, Dane, Wilhelm, James E   +5 more
core   +3 more sources