Results 111 to 120 of about 26,062 (264)

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

open access: yesMolecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj  

Study of LG-Holling type III predator-prey model with disease in predator [PDF]

open access: yesarXiv, 2017
In this article, a Leslie-Gower Holling type III predator-prey model with disease in predator has been developed from both biological and mathematical point of view. The total population is divided into three classes, namely, prey, susceptible predator and infected predator.
arxiv  

A Newborn with Maple Syrup Urine Disease

open access: yesNorthern International Medical College Journal, 2018
Abstract not available Northern International Medical College Journal Vol.10(1) Jul 2018: 357 ...
Ayesha Noor   +4 more
openaire   +2 more sources

Coiling instability in the kitchen [PDF]

open access: yesarXiv
Manipulation of viscous liquids is an essential kitchen activity - from pouring golden syrup onto a pancake to decorating a cake with whipped cream frosting, from streaming ketchup on top of French fries to dispensing molten chocolate onto a strawberry.
arxiv  

Cutaneous Manifestation Maple Syrup Urine Disease: Case Report

open access: yesRevista Finlay
Maple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency.
Gabriel Alejandro Díaz Bernal   +2 more
doaj  

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

open access: yesStem Cell Research, 2019
Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li   +10 more
doaj  

Maple Syrup Urine Disease [PDF]

open access: yesPediatrics & Therapeutics, 2016
Jorge Alvarez   +2 more
openaire   +2 more sources

Home - About - Disclaimer - Privacy