Results 171 to 180 of about 26,062 (264)

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

Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease. [PDF]

Front Pediatr, 2022
Sánchez-Pintos P, Meavilla S, López-Ramos MG, García-Cazorla Á, Couce ML.   +4 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

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

Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country

, 2016
Leniza De Castro-Hamoy, Mary Anne D. Chiong, Sylvia C. Estrada, Cynthia P. Cordero   +3 more
openalex   +2 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

, 2020
Bin Wang, Chen Liu, Haiyan Zhang, Zhongtao Gai, Yi Liu   +4 more
openalex   +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

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

, 2016
Mary Anne D. Chiong, Marilyn A. Tan, Cynthia P. Cordero, Esphie Grace D. Fodra, Judy S. Manliguis, Cristine P. Lopez, Leslie Michelle M. Dalmacio   +6 more
openalex   +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

Imaging findings in maple syrup urine disease: A case report

, 2018
AnjaneyaS Kathait, Paulo Puac, Maurício Castillo   +2 more
openalex   +2 more sources