Results 131 to 140 of about 3,985 (198)

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease [PDF]

, 2013
Emilie Muelly, Gregory J. Moore, Scott C. Bunce, Julie Mack, Don C. Bigler, D. Holmes Morton, Kevin A. Strauss   +6 more
openalex   +1 more source

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

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

Perioperative management of a patient with maple syrup urine disease [PDF]

, 2008
Diego Fuentes-García, Luis Falcón-Araña   +1 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

Serum concentrations of branched chained amino acids (BCAA) in neonates with classic maple syrup urine disease (MSUD) in the first 4 days of life [PDF]

, 1980
Iraj Rezvani, Angelo M. DiGeorge, Luigi Garibaldi, M. Z. Schwartz, P. Durand   +4 more
openalex   +1 more source

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]

, 2019
Andrés Eduardo Campuzano-García, Juan Pablo Castanedo-Cázares   +1 more
openalex   +1 more source

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease. [PDF]

Nutrients
Pretese R, Bonfanti C, Faraguna MC, Fantasia M, Crescitelli V, Barzaghi S, Botti M, Mezzanotti G, Gasperini S.   +8 more
europepmc   +1 more source

Domino Liver Transplantation: Anesthetic Considerations for a Patient With Maple Syrup Urine Disease and Type I Diabetes Mellitus. [PDF]

Cureus
Southard-Goebel C, Serrano RA.
europepmc   +1 more source