Results 151 to 160 of about 26,062 (264)

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

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

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

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

Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

, 2005
Hiroshi Mitsubuchi, Misao Ōwada, Fumio Endo   +2 more
openalex   +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

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

A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD). [PDF]

Healthcare (Basel), 2023
Banjar HR.
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

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