Results 121 to 130 of about 3,985 (198)

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

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization [PDF]

, 2020
Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique de Sain-van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette S. Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Francjan J. van Spronsen, Gepke Visser, Maaike C. de Vries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch   +17 more
openalex   +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

A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy [PDF]

, 2001
Ki Hyang Moon, Oh Sook Gwon, Jung Im Lee, Seong Woo Rho, Seong Sook Jeon, Son Sang Seo   +5 more
openalex  

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

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. [PDF]

, 1991
Carolyn R. Fisher, J.L. Chuang, R. P. Cox, C. Fisher, Robert A. Star, David Chuang   +5 more
openalex   +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

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

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