Results 161 to 170 of about 9,849 (231)

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

The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population

, 2018
N Gorjizadeh, Omid Jazayeri, Saeid Najavand, Morteza Alijanpour   +3 more
openalex   +1 more source

A detailed summary of maple syrup urine disease

Soumya, S, Ruchitha, J, Amulya, K, Praveena, R, Fathima, Syeda Nishat   +4 more
openalex   +1 more source

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

, 2022
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix Meltzer, Seth Berger, Matthew W. Olson, Robert A. Figler, Steve Hoang, Wanxing Cui, Brian R. Wamhoff, Maria Sol Collado, Kristina Cusmano‐Ozog   +11 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

Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease. [PDF]

J Pediatr, 2021
Ewing CB, Soltys KA, Strauss KA, Sindhi R, Vockley J, McKiernan P, Squires RH, Bond G, Ganoza A, Khanna A, Mazariegos GV, Squires JE.   +11 more
europepmc   +1 more source

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population [PDF]

, 2001
Lisa Edelmann, Melissa Wasserstein, Ruth Kornreich, Claude Sansaricq, Selma E. Snyderman, George A. Díaz   +5 more
openalex   +1 more source

Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease. [PDF]

J Inherit Metab Dis
Tejedor JR, Soriano-Sexto A, Beccari L, Castejón-Fernández N, Correcher P, Sainz-Ledo L, Alba-Linares JJ, Urdinguio RG, Ugarte M, Fernández AF, Rodríguez-Pombo P, Fraga MF, Pérez B.   +12 more
europepmc   +1 more source

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant. [PDF]

Orphanet J Rare Dis
Lakkhana P, Tim-Aroon T, Khongkraparn A, Noojarern S, Wongkittichote P, Wichajarn K, Kuptanon C, Boonyawat B, Suphapeetiporn K, Wejaphikul K, Seo G, Wattanasirichaigoon D.   +11 more
europepmc   +1 more source

A RARE CASE REPORT: MAPLE SYRUP URINE DISEASE

, 2016
Suryakant Yashwant Ingale, Prashant Popatlal Shah, Pratik Yadav, Harshada Tatiya, Raghunandan Reddy Bheem Reddy   +4 more
openalex   +1 more source