Results 81 to 90 of about 2,974 (143)

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease. [PDF]

Eur J Pediatr
Oral-Cebeci S, Aktuğlu-Zeybek Ç, Aslan B, Uysal ÖY, Cansever MŞ, Kıykım E, Zubarioglu T.   +6 more
europepmc   +1 more source

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]

Orphanet J Rare Dis
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z.   +7 more
europepmc   +1 more source

Diagnosis of an intermediate case of maple syrup urine disease: A case report. [PDF]

World J Clin Cases, 2023
Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, Peng MZ, Li XZ.   +7 more
europepmc   +1 more source

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