Results 181 to 190 of about 9,849 (231)

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: Membrane amino acid transport in non-brain tissues revisited

, 2014
Carlos de Céspedes
openalex   +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, Dr.Vignesh Raja U.S, Nivetha Shanmugam, Sabarieshwaran Kullan, Bikram Biswas   +5 more
openalex   +1 more source

Morphological Alterations and Cell Death Provoked by the Branched-Chain α-Amino Acids Accumulating in Maple Syrup Urine Disease in Astrocytes from Rat Cerebral Cortex

, 2005
Cláudia Funchal, Carmem Gottfried, Lúcia Maria Vieira de Almeida, André Quincozes dos Santos, Moaçir Wajner, Regina Pessoa‐Pureur   +5 more
openalex   +2 more sources

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

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

Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

, 1982
David Chuang, L. S. Ku, R. P. Cox
openalex   +2 more sources

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

Barriers to Transplantation in Adults with Inborn Errors of Metabolism [PDF]

core   +1 more source