Results 41 to 50 of about 1,894 (150)

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I [PDF]

, 2010
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation.
Vries, M.M.C. (Maaike) de, Eling, Marc, Maaike M. C. de Vries, Reijngoud, D.J., Spronsen, F.J. (Francjan) van, Cuppen, M. (Marcel), Reijngoud, Dirk-Jan, Frans W. Verheijen, Rings, E.H.H.M. (Edmond), de Vries, Maaike M. C., Dirk-Jan Reijngoud, Francjan J. van Spronsen, Martijn J. de Groot, Verheijen, F.W. (Frans), Rings, Edmond H. H. M., Edmond H. H. M. Rings, Reijngoud, Dirk-Jan; id_orcid, Marc Eling, Groot, M.J. (Martijn) de, Eling, M. (Marc), de Groot, Martijn J., Marcel Cuppen, Cuppen, Marcel, van Spronsen, Francjan J., Verheijen, Frans W.   +24 more
core   +1 more source

Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Asian Journal of Medical Sciences, 2013
Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj   +1 more source

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Identification of three novel mutations in fourteen patients with citrullinemia type 1

, 2017
OBJECTIVES: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASS1) gene, which encodes for the argininosuccinate synthetase enzyme.
Kose, Engin, Häberle, Johannes, Gunduz, Mehmet, Bulbul, Selda, Unal, Ozlem, Haeberle, Johannes, Arslan, Nur, Arslan N, Gunduz M, Unal O, Kose E, Häberle J, Bulbul S   +12 more
core   +1 more source

Urea Cycle Disorders in Neonates: Six Case Reports

Journal of Pediatric Research, 2017
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik, Demet Terek, Özgür Olukman, Mehtap Kağnıcı, Şükran Keskin Gözmen, Erkin Serdaroğlu, Şebnem Çalkavur, Sertaç Arslanoğlu   +7 more
doaj   +1 more source

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy [PDF]

, 2013
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life.
Häberle, J, Jagadeesh, Sujatha, Seshadri, Suresh, Karthikeyan, G   +3 more
core   +2 more sources

Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aim Maple Syrup Urine Disease (MSUD) is a metabolic disorder affecting branched‐chain amino acid metabolism. While neurological symptoms are well‐characterized, cutaneous manifestations such as acrodermatitis dysmetabolica (AD) caused by isoleucine deficiency remain underrecognized.
Bahareh Abtahi‐naeini, Motahar Heidari‐Beni, Noushin Rostampour, Naeimeh Davoudi, Sarah Seyedyousefi   +4 more
wiley   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, Volume 4, Issue 3, Page 322-334, August 2026.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source

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

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
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