Results 161 to 170 of about 11,541 (279)

Erratum to: Imaging findings of anaplastic astrocytoma in a child with maple syrup urine disease: a case report [PDF]

, 2015
Jessie Aw-Zoretic, Nitin R. Wadhwani, Rishi Lulla, Maura E. Ryan   +3 more
openalex   +1 more source

Maple syrup urine disease: past, present, future at the reference center of a state in Northeast Brazil [PDF]

, 2023
Ester Mara Rodrigues Freire, Raffaela Neves Mont' Alverne, Mariana de Souza Rocha Teixeira, Beatriz Esmeraldo Teixeira, Aline Campos Fontenele Rodrigues, Rôsicler Pereira de Gois, Tamiris Carneiro Mariano, André Luiz Santos Pessoa, Erlane Marques Ribeiro   +8 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

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 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

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

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

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

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