Results 181 to 190 of about 11,541 (279)

Electrochemical sensing of the maple syrup urine disease biomarker valine, using saffron-silver nanoparticles

, 2022
Sophia Κarastogianni, Ioanna Paraschi, Stella Girousi   +2 more
openalex   +1 more source

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry. [PDF]

Am J Med Genet A, 2022
Billington CJ, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K.   +11 more
europepmc   +1 more source

Inborn Errors of Metabolism and Brain Involvement - 5 Years Experience from a Tertiary Care Center in South India [PDF]

, 2012
D. M. Vasudevan, Kannan Vaidyanathan, M. P. Narayanan   +2 more
core   +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

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

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

A New Variety of Maple Syrup Urine Disease [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977
T. L. Turner, J. A. B. Darling, M. M. Giles, F. Cockburn, M. Grant, R. A. Harkness   +5 more
openaire   +3 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