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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C. Martín-Rivada Á, et al. JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281663 Free PMC article.
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. ...In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred …
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expande …
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S, Liu S, Zheng Q, Yang S, Mao H, Wang Z, Gu Y, Tang X, Wang L. Men S, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2152. doi: 10.1002/mgg3.2152. Epub 2023 Feb 14. Mol Genet Genomic Med. 2023. PMID: 36787440 Free PMC article.
BACKGROUND: The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. ...RESULTS: Among 245,194 newborns, 95 were …
BACKGROUND: The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, the …
Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
Pritchard AB, Izumi K, Payan-Walters I, Yudkoff M, Rand EB, Bhoj E. Pritchard AB, et al. Am J Med Genet A. 2022 May;188(5):1443-1447. doi: 10.1002/ajmg.a.62659. Epub 2022 Jan 23. Am J Med Genet A. 2022. PMID: 35068050
Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. ...A retrospective chart review was performed on patients …
Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism …
Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.
Meiouet F, El Kabbaj S, Abilkassem R, Boemer F. Meiouet F, et al. Pediatr Rep. 2023 Mar 10;15(1):227-236. doi: 10.3390/pediatric15010018. Pediatr Rep. 2023. PMID: 36976725 Free PMC article.
BACKGROUND: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is increasingly …
BACKGROUND: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM …
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J, Han L, Yang P, Feng Z, Xue S. Zhu J, et al. PeerJ. 2024 Dec 9;12:e18173. doi: 10.7717/peerj.18173. eCollection 2024. PeerJ. 2024. PMID: 39670100 Free PMC article.
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. ... …
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang p …
Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Eminoğlu FT, Öncül Ü, Kahveci F, Okulu E, Kraja E, Köse E, Kendirli T. Eminoğlu FT, et al. Pediatr Nephrol. 2022 Jun;37(6):1387-1397. doi: 10.1007/s00467-021-05329-9. Epub 2021 Oct 25. Pediatr Nephrol. 2022. PMID: 34693482 Free PMC article.
BACKGROUND: Continuous kidney replacement therapies (CKRT) have been reported to be an effective approach to removing toxic metabolites in inborn errors of metabolism (IEM). The present study evaluates efficiency and complications of CKRT in children w …
BACKGROUND: Continuous kidney replacement therapies (CKRT) have been reported to be an effective approach to removing toxic metabolites in …
Acute hemodialysis therapy in neonates with inborn errors of metabolism.
Eisenstein I, Pollack S, Hadash A, Eytan D, Attias O, Halberthal M, Ben-Ari J, Bar-Joseph G, Zelikovic I, Mandel H, Tal G, Magen D. Eisenstein I, et al. Pediatr Nephrol. 2022 Nov;37(11):2725-2732. doi: 10.1007/s00467-022-05507-3. Epub 2022 Mar 3. Pediatr Nephrol. 2022. PMID: 35239033
BACKGROUND: Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic metabolites with deleterious effect on the developing brain. While hemodialysis (HD) is …
BACKGROUND: Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, …
From Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.
Chandra B, Klemmensen M, Shayota BJ, Gropman AL. Chandra B, et al. Pediatr Neurol. 2025 Dec;173:5-21. doi: 10.1016/j.pediatrneurol.2025.08.017. Epub 2025 Aug 25. Pediatr Neurol. 2025. PMID: 40997648 Review.
Advances in newborn screening, molecular diagnostics, and targeted therapies have markedly improved survival for individuals with inborn errors of metabolism (IEM), allowing many to live well into adulthood. While some may remain asymptomatic, their un …
Advances in newborn screening, molecular diagnostics, and targeted therapies have markedly improved survival for individuals with inborn …
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
Salman DO, Mahfouz R, Bitar ER, Samaha J, Karam PE. Salman DO, et al. Front Genet. 2022 Nov 18;13:1029947. doi: 10.3389/fgene.2022.1029947. eCollection 2022. Front Genet. 2022. PMID: 36468010 Free PMC article.
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon. ...Results: Out of 211 patients genetically tested, 126 were suspected to have an inborn error …
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high …
Maternal-fetal outcomes of pregnancies in women treated at an inborn errors of metabolism unit.
Piñar-Gutiérrez A, Dios Fuentes E, Benítez-Ávila R, de Ana-Lobato L, Bueno-Delgado MDA, Soto-Moreno A, Venegas-Moreno E. Piñar-Gutiérrez A, et al. Endocrinol Diabetes Nutr (Engl Ed). 2023 Feb;70(2):98-106. doi: 10.1016/j.endien.2022.09.006. Epub 2023 Mar 2. Endocrinol Diabetes Nutr (Engl Ed). 2023. PMID: 36870805
INTRODUCTION: Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phenylketonuria (PKU), tyrosinemia II (TSII), organic acidaemias and ornithine transcarbamylase deficiency (OTCD), among others. . …
INTRODUCTION: Intermediate Inborn Errors of Metabolism (IEM) are a group of inherited diseases that include phen …
28 results