Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1337
Abstract: Abstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the… read more here.
Keywords: maple sirup; urine disease; dbt genes; bckdhb dbt ... See more keywords
Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
Sign Up to like & getrecommendations! Published in 2022 at "Laboratory medicine"
DOI: 10.1093/labmed/lmac034
Abstract: OBJECTIVE Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. METHODS… read more here.
Keywords: maple syrup; syrup urine; pathogenic homozygous; dbt gene ... See more keywords
Long‐term results of liver transplantation for maple syrup urine disease: A single‐center experience in Turkey
Sign Up to like & getrecommendations! Published in 2023 at "Pediatric Transplantation"
DOI: 10.1111/petr.14464
Abstract: Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder. Despite the advances in medical nutrition therapies, classical phenotype causes severe neurological disorders and sudden death. It is known that MSUD patients do not… read more here.
Keywords: long term; maple syrup; syrup urine; transplantation ... See more keywords
Teaching NeuroImage: Optic Pathway Involvement in Maple Syrup Urine Disease
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201290
Abstract: A 10-day-old neonate presented with vomiting and irritability. Diffusion-weighted imaging showed abnormal signal intensities, including characteristic involvement of the optic pathway (Figure, A and B). Maple syrup urine disease (MSUD) was suspected. Blood tests confirmed… read more here.
Keywords: maple syrup; optic pathway; involvement; syrup urine ... See more keywords
Identification of gene mutations in six Chinese patients with maple syrup urine disease
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1132364
Abstract: Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of… read more here.
Keywords: maple syrup; disease; syrup urine; high throughput ... See more keywords
A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD)
Sign Up to like & getrecommendations! Published in 2023 at "Healthcare"
DOI: 10.3390/healthcare11020178
Abstract: A metabolic disorder is due to a gene mutation that causes an enzyme deficiency which leads to metabolism problems. Maple Syrup Urine Disease (MSUD) is one of the most common and severe hereditary metabolic disorders… read more here.
Keywords: system; maple syrup; food; syrup urine ... See more keywords
Intraoperative error in estimation of blood loss due to change in the size of abdominal swab
Sign Up to like & getrecommendations! Published in 2018 at "Indian Journal of Anaesthesia"
DOI: 10.4103/ija.ija_205_18
Abstract: 1. Mazariegos GV, Morton DH, Sindhi R, Soltys K, Nayyar N, Bond G, et al. Liver transplantation for classical maple syrup urine disease: Long-term follow-up in 37 patients and comparative United Network for Organ Sharing… read more here.
Keywords: maple syrup; urine disease; intraoperative error; syrup urine ... See more keywords