Results 141 to 150 of about 5,954 (223)

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

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

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

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China. [PDF]

QJM
Yang X, Yang R, Zhang T, Tan DJ, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L.   +12 more
europepmc   +1 more source

Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach. [PDF]

Orphanet J Rare Dis
Rostampour N, Dalili S, Moravej H, Afshar Z, Yazdani N, Mousavi ST, Rostami P, Zamanfar D, Yahay M, Nikravesh A, Beyzaei Z, Davoodi MA, Sedaghat A, Hakemzadeh T, Talea A.   +14 more
europepmc   +1 more source

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review. [PDF]

BMC Med Genomics
Younes S, Elkahlout R, Kilani H, Okashah S, Sharshani HA, Rezoug Z, Zayed H, Al-Dewik N.   +7 more
europepmc   +1 more source

Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report. [PDF]

BMC Pediatr
Baidya S, Thapa J, Kadel A, Kharal N, Lamichhane M, Dubey RK, Raut M, Bhattarai A, Tuladhar ET, Sharma VK, Niraula A.   +10 more
europepmc   +1 more source

Intramyelinic edema in maple syrup urine disease

Annals of Indian Academy of Neurology, 2014
Leema Pauline Cornelius, B. Kannan, Viveka Saravanan, Eswaradass Prasanna Venkatesan   +3 more
doaj   +1 more source