Results 101 to 110 of about 2,974 (143)

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

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

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

Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease. [PDF]

Genet Med Open
Tumulak MJR, Padilla CD, Ongchangco JCE, Laurino MY, Lagarde JBB, Regalado ES, Legaspi AV, Ventura ER.   +7 more
europepmc   +1 more source

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

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

Maple syrup urine disease

, 2019
openaire   +2 more sources

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