Results 61 to 70 of about 7,812 (191)

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia

Journal of Medical Case Reports
Background Methylmalonic acidemia is a very rare genetic metabolic disease. Patients with isolated methylmalonic acidemia typically present with acute alterations of consciousness, failure to thrive, anorexia, vomiting, respiratory distress, and muscular
Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian   +3 more
doaj   +1 more source

Imerslund‐Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in the AMN Gene: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The 7‐year‐old girl had recurrent anemia for 6 years, showing large cell anemia. The parent‐derived AMN double heterozygous mutation was detected to confirm the diagnosis of IGS. The hemogram was normal after intramuscular injection of vitamin B12, and there were no other complications.
Cheng Chen, Yijia Min, Xiaoping Ye, Yu Ma, Huiqing Ge, Jingying Chou, Xiaoling Yang, Yingying Cui, Xiaochun Zhang   +8 more
wiley   +1 more source

Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

Journal of Rare Diseases
Purpose Methylmalonic acidemia is caused by impaired metabolism of certain amino acids, odd-chain fatty acids and cholesterol side chains. One of the most severe forms of methylmalonic acidemia is caused by complete (mut0) or partial (mut-) deficiency of
Tamás Zelei, Kristóf Gyöngyösi, Máté Pálfi, Adina Turcu-Stiolica, Bertalan Németh, Zoltán Vokó, Vanja Sikirica, Patrick Burkett, Geetanjoli Banerjee   +8 more
doaj   +1 more source

Evaluation of a Targeted LC–MS/MS Assay for Clinical Quantification of Urinary Organic Acids

Journal of Mass Spectrometry, Volume 61, Issue 8, August 2026.
ABSTRACT Gas chromatography–mass spectrometry (GC–MS) is the reference method for urine organic acid analysis but requires complex sample preparation and derivatization, limiting routine clinical use. We developed and validated a targeted Liquid chromatography–tandem mass spectrometry (LC–MS/MS) method for quantifying urinary organic acids relevant to ...
Earnest J. P. Daniel, Emily Garnett, Deepthi Rajapakshe, Sridevi Devaraj   +3 more
wiley   +1 more source

Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

, 2011
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Methylmalonic acidemia (MMA) is an inherited organic acidemia usually present with recurrent episodes of acute illness.
Cebeci, N, Aktekin, E H, B Fowler, Guven, A, EH Aktekin, Baumgartner, Matthias R; https://orcid.org/, N Cebeci, A Dursun, MR Baumgartner, Dursun, A, A Guven, Fowler, B   +11 more
core   +2 more sources

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

Isolated methylmalonic acidemia: a case report.

, 2016
International audienceIsolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia.
Cristol, Jean-Paul, Boubal, Mathilde, Baleine, Julien, Es Sadki, Tarik, Sieso, Victor, Vallat, Catherine, Cambonie, Gilles, Badiou, Stéphanie, Vianey-Saban, Christine   +8 more
core   +1 more source

Methylmalonic Acidemia: Can Treatment be Improved? [PDF]

, 2015
Methylmalonic acidemia (MMA) is a severe metabolic disorder, particularly with complete deficiency of methylmalonyl-CoA mutase. Dietary restriction has led to overt signs of deficiencies including skin rashes, hair loss, and poor growth.
Fuller, Kelly, Freedenberg, Debra, Ross, Nancy, Michals-Matalon, Kimberlee, Matalon, Reuben, Bilger, Kimberly, Lombardo, Rachel   +6 more
core  

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome [PDF]

, 2018
Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement ...
Nolasco, F, Vilarinho, Laura, Fidalgo, Teresa, David Navarro, Santos, MC, Teresa Fidalgo, Carvalho, Fernanda, Calado, J, Azevedo, Ana, Calado, Joaquim, Ferreira, Ana Carina, Laura Vilarinho, Azevedo, A, Navarro, David, Santos, Maria Céu, Ana Azevedo, Sequeira, S, Navarro, D, Joaquim Calado, Fidalgo, T, Sílvia Sequeira, Fernando Nolasco, Vilarinho, L, Carvalho, F, Maria Céu Santos, Ferreira, AC, Sequeira, Sílvia, Nolasco, Fernando, Fernanda Carvalho, Ana Carina Ferreira   +29 more
core   +1 more source