Results 181 to 190 of about 14,220 (236)

Methylmalonic Aciduria and Homocystinuria, cblC Type [PDF]

, 2020
openaire   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral. [PDF]

Int J Neonatal Screen
Meijer NWF, Huidekoper HH, Koop K, Fuchs SA, Heiner Fokkema MR, Lubout CMA, Haijer-Schreuder AB, Visser WF, Verschoof-Puite RK, Dekkers E, Bosch AM, Maase RE, de Sain-van der Velden MGM.   +12 more
europepmc   +1 more source

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +1 more source

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Neurologic outcome following liver transplantation for methylmalonic aciduria

Journal of Inherited Metabolic Disease, 2023
Liver and liver/kidney transplantation are increasingly used in methylmalonic aciduria, but little is known on their impact on CNS. The effect of transplantation on neurological outcome was prospectively assessed in six patients pre‐ and post‐transplant ...
D. Martinelli, G. Catesini, Benedetta Greco, Alessia Guarnera, C. Parrillo, Evelina Maines, D. Longo, A. Napolitano, Francesca De Nictolis, S. Cairoli, D. Liccardo, S. Caviglia, Anna Sidorina, G. Olivieri, B. Siri, R. Bianchi, G. Spagnoletti, L. Strologo, M. Spada, C. Dionisi-Vici   +19 more
semanticscholar   +1 more source

Benign Methylmalonic Aciduria

New England Journal of Medicine, 1984
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is usually considered to be a serious, often life-threatening disease. However, through routine screening of urine in neonates or screening of siblings of clinically affected neonates, we have identified eight children who have a benign clinical variant of this disorder.
F D, Ledley, H L, Levy, V E, Shih, R, Benjamin, M J, Mahoney   +4 more
openaire   +2 more sources

Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria.

JAMA Neurology, 2023
This case report describes reversible cortical and basal ganglia lesions in late-onset methylmalonic aciduria in a man in his mid-40s.
Xujun Chu, Haotian Yan, Meng Yu
semanticscholar   +1 more source