Results 121 to 130 of about 8,782 (207)

Neonatal maple syrup urine disease case report and literature review. [PDF]

Medicine (Baltimore), 2022
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L.   +5 more
europepmc   +1 more source

Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease. [PDF]

Mol Genet Metab Rep
Garrett R, Pickett S, Peters MJ, Belhassan K, Ptolemy AS, Peake RWA.   +5 more
europepmc   +1 more source

Identification of gene mutations in six Chinese patients with maple syrup urine disease. [PDF]

Front Genet, 2023
Li L, Mao X, Yang N, Ji T, Wang S, Ma Y, Yang H, Sang Y, Zhao J, Gong L, Tang Y, Kong Y.   +11 more
europepmc   +1 more source

Functional connectivity changes in mouse models of maple syrup urine disease. [PDF]

Cereb Cortex
Lavery S, Adepoju TE, Fisher HB, Chan C, Kuhs A, Ahrens-Nicklas RC, White BR.   +6 more
europepmc   +1 more source

Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease. [PDF]

JIMD Rep, 2023
Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L.   +5 more
europepmc   +1 more source

Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease. [PDF]

Pediatr Dev Pathol
Shui Y, Geng Y, Naini BV, Wang HL.
europepmc   +1 more source

Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology. [PDF]

Int J Mol Sci, 2023
Kreiser T, Sogolovsky-Bard I, Zaguri D, Shaham-Niv S, Laor Bar-Yosef D, Gazit E.   +5 more
europepmc   +1 more source

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease. [PDF]

JIMD Rep
Vaseenon H, Tim-Aroon T, Saengow VE, Sangcakul A, Wongkittichote P, Khongkraparn A, Wattanasirichaigoon D.   +6 more
europepmc   +1 more source

Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease. [PDF]

Commun Med (Lond)
Roberti D, Grier AL, Reisz JA, Vallefuoco F, Key A, Bevers S, Dzieciatkowska M, Nemkov T, Contieri M, Zanfardino A, Norris PJ, Busch MP, Kauffman V, Morton HD, Earley EJ, Page GP, Marzuillo P, D'Alessandro A.   +17 more
europepmc   +1 more source

Treatment of COVID-19 in a Patient With Maple Syrup Urine Disease. [PDF]

Cureus, 2022
Morton KF, Goetz RL, Linscott KB, Van Wagoner NJ.   +3 more
europepmc   +1 more source