Results 121 to 130 of about 59,746 (203)

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report. [PDF]

Mol Genet Metab Rep
Upadia J, Noh G, Crivelly K, Smith J, Andersson HC.   +4 more
europepmc   +1 more source

Maple Syrup and Bacillus velezensis based Supplement: in Vivo Study of the Impact on Growth Performance, Microbiota Composition, and Metabolic Activity in Weaned Piglets. [PDF]

Curr Microbiol
Decabooter G, Verso LL, Guay F, Filteau M, Fliss I.   +4 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

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

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

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

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease. [PDF]

Sci Rep
Abdelkhalek ZS, Hussein SM, Mahmoud IG, Ramadan A, Kamel MA, Girgis MY, Elmonem MA.   +6 more
europepmc   +1 more source

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease. [PDF]

JIMD Rep
Tu SC, Khan M, Wolfe K, Kulkarni SS, Toolan E, Grange DK.   +5 more
europepmc   +1 more source