Results 141 to 150 of about 3,985 (198)

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

Metabolic Toxicity of Keto- Isovaleric Acid: A Comprehensive Review with Special Reference to Maple Syrup Urine Disease and Renal Involvement

Sreejith Parameswaran, Pachava Anusha, Sabarieshwaran Kullan   +2 more
openalex   +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

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

AB115. Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features

, 2015
Mary Anne D. Chiong, Cynthia P. Cordero, Esphie Grace D. Fodra, Judy S. Manliguis, Cristine P. Lopez, Leslie Michelle M. Dalmacio   +5 more
openalex   +2 more sources

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

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