# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Maple syrup urine disease

Maple Syrup Urine Disease (MSUD)
Get Update

Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Maple syrup urine disease" returned 1 free, full-text review articles. First 1 results:
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Last Updated: Apr 29, 2019

Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. Patients with MSUD are at risk of life-threatening metabolic decompensations with ketoacidosis and encephalopathy. These episodes are often triggered by physiological stress. ...

Domino liver transplantation in maple syrup urine disease: a case report and review of the literature.
Last Updated: Mar 18, 2013

Improved outcomes have expanded the indications for liver transplantation, thus aggravating the already limited supply of donor organs. Domino liver transplantation (DLT) has been one strategy to augment the supply of donor organs in cases of inborn errors of metabolism. One such ...

Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy.
Last Updated: Jan 14, 2019

Maple syrup urine disease (MSUD) was first recognized as an inherited lethal encephalopathy beginning in the first week of life and associated with an unusual odor in the urine of affected children. It was later confirmed as a deficiency of branched-chain keto acid dehydrogenase (BCKDH), ...

Full PubMed Review articles matches at NCBI:
1 Free Review Articles 13 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Maple syrup urine disease" returned 0 free, full-text editorial articles. First 0 results:
Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Maple syrup urine disease" returned 98 free, full-text research articles. First few results:
[Hypoglycaemia and seizures in a 32-year-old woman with maple syrup urine disease].
Last Updated: Mar 12, 2020

A 32-year-old woman with maple syrup urine disease presented with recurring episodes with hypoglycaemia and cerebral seizures. In most cases a connection to the inborn metabolic disorder is assumed, resulting in symptomatic treatment. Due to these treatments invasive procedures ...

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate.
Last Updated: Jan 29, 2020

Aygün F, Kıykım E, Aktuğlu-Zeybek Ç, Zubarioğlu T, Cam H. Treatment of maple syrup urine disease with high flow hemodialysis in a neonate. Turk J Pediatr 2019; 61: 107-110. Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, ...

Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
Last Updated: Jul 22, 2019

Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic metabolic disease, with a high incidence rate in infants. We analyzed the data of molecular genetic analysis of five infants whose metabolism screening suspected MSUD and described their clinical symptoms. Further, ...

Full PubMed Research articles matches at NCBI:
98 Free Research Articles 412 Research Articles