Results 81 to 90 of about 585 (187)

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates

The FEBS Journal, EarlyView.
In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi, Myra Gartner, Claris Simovich, Lihi Gershon, Alexander Brandis, Ehud Gazit, Dana Laor Bar‐Yosef   +6 more
wiley   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding

BMC Medical Genomics
Background Alkaptonuria (AKU) is a rare autosomal recessive inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD), its deficiency results in homogentisic acid (HGA) accumulation, which oxidizes to form melanin-like ...
María Camila León – Sanabria, Ana María Zarante-Bahamón   +1 more
doaj   +1 more source

Protein consumption during pregnancy and risk of gestational diabetes mellitus: Insights from a multi‐center case–control study

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims Gestational diabetes mellitus (GDM) poses major health risks for mothers and infants. Evidence on the association between dietary protein intake and GDM risk remains inconsistent. This study investigated dietary protein quantity and quality in relation to GDM.
Marzieh Zare, Elnaz Daneshzad, Hatav Tehrani, Razieh Tabaeifard, Maryam Mahmoudi, Leila Azadbakht   +5 more
wiley   +1 more source

Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy

Children
Background/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized.
Bengisu Guner Yilmaz, Saygin Abali, Ariorad Moniri, Umut Kilinckaya, Ekin Altinbas, Beril Ay, Bengisu Karakose, Yusuf Sahinoglu, Melis Sahinoglu, Bugra Yilmaz, Mustafa Serteser, Ayse Korkmaz, Ozlem Pata, Serdar Beken   +13 more
doaj   +1 more source

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source

Investigating GERMs: how genotype, environment, and rhizosphere microbiome interactions underlie heat response in maize and sorghum

New Phytologist, EarlyView.
Three genotypes – a heat‐resistant maize (Zea mays), a heat‐susceptible maize, and a sorghum (Sorghum bicolor) variety – were grown to the V4 stage in growth chambers under optimal conditions or subjected to heat stress. Plants were grown in soil containing a complex microbial community, or in the same soil with a depleted microbiome.
Nate Korth, Isabella Borrero, Katelyn Rumley, Alex L. Woodley, Mallory J. Choudoir, Joseph L. Gage   +5 more
wiley   +1 more source

Mapping and Functional Characterization of Homologous Genes AhSUCA06 and AhSUCA16 Underlying Sucrose, Oil and Protein Contents in Peanut (Arachis hypogaea L.)

Plant Biotechnology Journal, EarlyView.
ABSTRACT Cultivated peanut (Arachis hypogaea L.) is an important oilseed and cash crop, and seed sucrose content (SSC), seed oil content (SOC) and seed protein content (SPC) are key determinants of seed flavour, texture, and overall quality. Identifying quantitative trait loci (QTLs) and candidate genes associated with SSC, SOC and SPC is therefore of ...
Yuzhen Zheng, Feiyan Qi, Lei Shi, Ziqi Sun, Hongfei Liu, Hua Liu, Li Qin, Juan Wang, Chenyang Zhi, Mengmeng Wang, Ziqiang Mo, Stefano Pavan, Xiao Wang, Yaojun Hu, Huanhuan Zhao, Xiaona Li, Wenzhao Dong, Meng Zhang, XiaoDong Dai, Zheng Zheng, Xinyou Zhang   +20 more
wiley   +1 more source

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders

Talanta Open
Advancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran, Madan Gopal Ramarajan, Vykuntaraju Kammasandra Nanjundagowda, Aruna Gowdra, Jayesh Warade, Anikha Bellad, Kannan Rangiah   +6 more
doaj   +1 more source