Results 141 to 150 of about 9,849 (231)

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

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

Alternating Hemiplegia as A Major Symptom of Maple Syrup Urine Disease: Case Report [PDF]

, 2018
Marco Orsini
openalex   +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

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

Erratum to: Serum Markers of Neurodegeneration in Maple Syrup Urine Disease [PDF]

, 2016
Giselli Scaini, Tássia Tonon, Carolina Fischinger Moura de Souza, Patrícia Fernanda Schuck, Gustavo C. Ferreira, João Seda Neto, Tatiana Amorim, Ida Vanessa Döederlein Schwartz, Emílio L. Streck   +8 more
openalex   +1 more source

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids. [PDF]

Stem Cell Res Ther
Zhang H, Wan Z, Li X, Wang B, Guan J, Li Y, Jin X, Ma X, Liu G.   +8 more
europepmc   +1 more source

Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease. [PDF]

Healthcare (Basel), 2023
Alrige M, Banjar H, Shuaib T, Ahmed A, Gharbawi R.   +4 more
europepmc   +1 more source

Reply to: “Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease” [PDF]

, 2006
K. Strauss, T. Hartman, George Mazariegos   +2 more
openalex   +1 more source