Results 131 to 140 of about 5,966 (238)

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

Mutational spectrum of maple syrup urine disease in Spain

, 2006
Pilar Rodríguez‐Pombo, Rosa Navarrete, B. Merinero, Paulino Gómez‐Puertas, Magdalena Ugarte   +4 more
openalex   +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

Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease. [PDF]

Ann Transplant, 2023
Zhang JP, Zhu ZJ, Sun LY, Wei L, Qu W, Zeng ZG, Zhang HM, Liu Y.   +7 more
europepmc   +1 more source

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. [PDF]

JIMD Rep, 2022
Yokoi K, Nakajima Y, Sudo Y, Mariya T, Kawamura R, Tsutsumi M, Inagaki H, Yoshikawa T, Ito T, Kurahashi H.   +9 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

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption? [PDF]

Front Pediatr, 2022
Moreira-Silva H, Ferreira S, Almeida M, Gonçalves I, Cipriano MA, Vizcaíno JR, Santos-Silva E, Gomes-Martins E.   +7 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

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria. [PDF]

Mol Genet Metab Rep, 2022
Raghu VK, Dobrowolski SF, Sindhi R, Strauss KA, Mazariegos GV, Vockley J, Soltys K.   +6 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