Results 161 to 170 of about 5,954 (223)

Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU). [PDF]

J Community Genet
Merencilla RJE, Maceda EBG, Basas JRU, Adducul RTY, Francisco ML, Licudo JV, de Castro-Hamoy LG.   +6 more
europepmc   +1 more source

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands. [PDF]

Int J Neonatal Screen
Martens RC, Boelen A, van der Kemp MH, Bosch AM, Berghout EM, Weijman G, Zwaveling-Soonawala N, Verschoof-Puite RK, de Jonge R, Hannema SE, Bosmans JE, Heijboer AC.   +11 more
europepmc   +1 more source

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease. [PDF]

Int J Mol Sci
Alotaibi AZ, AlMalki RH, Al Mogren M, Sebaa R, Alanazi M, Jacob M, Alodaib A, Alfares A, Abdel Rahman AM.   +8 more
europepmc   +1 more source

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review. [PDF]

BMC Oral Health
Hassona Y, Alqaisi D, Flaifl Y, Alkilani A.   +3 more
europepmc   +1 more source

Acrodermatitis dysmetabolica with concomitant acquired acrodermatitis enteropathica in a patient with maple syrup urine disease. [PDF]

JAAD Case Rep
Santaliz-Ruiz LE, Marrero-Pérez AC, Sánchez-Pont J, Nevárez-Pomales O.   +3 more
europepmc   +1 more source

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis. [PDF]

Cureus
Miragaia P, Grangeia A, Rodrigues E, Sousa R, Ribeiro A.   +4 more
europepmc   +1 more source

Substituting Refined Sugars With Maple Syrup Decreases Key Cardiometabolic Risk Factors in Individuals With Mild Metabolic Alterations: A Randomized, Double-Blind, Controlled Crossover Trial. [PDF]

J Nutr
Morissette A, Agrinier AL, Gignac T, Ramadan L, Diop K, Marois J, Varin TV, Pilon G, Simard S, Larose É, Gagnon C, Arsenault BJ, Després JP, Carreau AM, Vohl MC, Marette A.   +15 more
europepmc   +1 more source

Letter to the Editors: Concerning "Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation" by Guilder et al. [PDF]

Mol Genet Metab Rep
Takano C, Ogawa E, Arai-Ichinoi N, Ishige M.   +3 more
europepmc   +1 more source

A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population. [PDF]

Mol Biol Res Commun
Rezaie N, Ghazanfari SS, Khosravi T, Vaghefi F, Oladnabi M.   +4 more
europepmc   +1 more source

Exploring immunoregulatory properties of a phenolic-enriched maple syrup extract through integrated proteomics and <i>in vitro</i> assays. [PDF]

Food Funct
Puopolo T, Chen Y, Ma H, Liu C, Seeram NP.   +4 more
europepmc   +1 more source