Results 141 to 150 of about 8,782 (207)

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

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +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

生化学(1) [PDF]

, 1993
古谷田 裕久, 平賀 紘一, 森ヶ﨑 進, 磯部 啓子, 高道 恵利子   +4 more
core   +2 more sources

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