Results 201 to 210 of about 11,541 (279)

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

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

Maple Syrup Urine Disease and Domino Liver Transplantation: When and How? [PDF]

, 2019
Angelico R., Dionisi-Vici C., Spada M.
core   +1 more source

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype. [PDF]

JIMD Rep
Singh E, Chi YI, Kopesky J, Zimmerman M, Urrutia R, Basel D, Schwoerer JS.   +6 more
europepmc   +1 more source

Liquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the detection of maple syrup urine disease. [PDF]

J Mass Spectrom Adv Clin Lab
Raveendran A, Gupta A, Lewis LE, Prabhu K, Moorkoth S.   +4 more
europepmc   +1 more source

Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

Egyptian Journal of Medical Human Genetics, 2018
Alyaa A. Kotby, Marwa M. Al-Fahham, Heba Salah A. Elabd, Osama K. Zaki   +3 more
doaj   +1 more source

Plasma atrial natriuretic factor in patients with cirrhosis [PDF]

, 1985
Arendt, Rainer M., Gerbes, Alexander L., Jüngst, Dieter, Paumgartner, Gustav, Ritter, D., Zähringer, J.   +5 more
core  

Assembly of branched chain amino acid (BCAA) to toxic fibrils may be related to pathogenesis of Maple syrup urine disease (MSUD)

Chandra P Kanth, Monisha Patel, Raj Dave, Ankur Singh, Aayushi Joshi, Manoj Kumar Pandey, Dhiraj Bhatia, Nidhi Gour   +7 more
openalex   +1 more source

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PPM1K defects cause mild maple syrup urine disease: The second case in the literature

American Journal of Medical Genetics. Part A, 2023
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched‐chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched‐chain α‐ketoacid dehydrogenase complex, which is ...
Firat Ozcelik, Sezai Arslan, Busra Ozguc Caliskan, F. Kardaş, Y. Ozkul, M. Dundar   +5 more
semanticscholar   +1 more source