- Citric acid as the last therapeutic approach in an acute life ...🔍
- Tricarboxylic acid cycle enzyme activities in a mouse model of ...🔍
- Carnitine palmitoyltransferase II deficiency🔍
- Top Published Expert Doctors for Propionic Acidemia🔍
- A novel small molecule approach for the treatment of propionic and ...🔍
- Propionic Acidemia🔍
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Anaplerotic therapy in propionic acidemia
Citric acid as the last therapeutic approach in an acute life ... - OUCI
Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia ... Authors: Manuela Siekmeyer; Stefanie ...
Tricarboxylic acid cycle enzyme activities in a mouse model of ...
acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long- ... Pasquali, · Anaplerotic therapy in propionic acidemia, ...
Carnitine palmitoyltransferase II deficiency - Neurology.org
Conclusions: The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency. Carnitine ...
Top Published Expert Doctors for Propionic Acidemia - Find Expert MD
Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in propionyl-COA carboxylase genes that result in dysfunction of branch chain ...
A novel small molecule approach for the treatment of propionic and ...
Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
Propionic Acidemia - MalaCards
Propionic acidemia, also known as propionic aciduria or propionyl-CoA ... Anaplerotic therapy in propionic acidemia. 62 5, Longo N...Pasquali M ...
Generation of a Medaka Fish Model of Propionic Acidemia for ...
The anaplerotic therapy comprising sodium citrate, ornithine α-ketoglutarate, and glutamine resulted in significant improvements of both survival and locomotor ...
Publication search with Anaplerosis as keyword - MyScienceWork
Propionic acidemia is an inborn error of metabolism caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase that converts the propionyl CoA ...
Propionic acidemia | Radiology Reference Article | Radiopaedia.org
Treatment and prognosis ... Long-term treatment of propionic acidemia is a low protein diet (especially low in the offending amino acids; e.g. ...
A clinical informatics approach and metabolic signatures of ...
In propionic acidemia the biochemical effect is increased organic acids which lead to ketosis and metabolic acidosis with secondary hyperammonemia and ...
Event and Photos - Propionic Acidemia Foundation
Interesting poster topics included the use of medical food, liver transplant, and anaplerotic therapy. During the breaks and meals there was time to network ...
Practical management of organic acidemias - IOS Press
Each type of organic acidemia shares some of the same treatment approaches but there are also some ... Pasquali, Anaplerotic therapy in propionic acidemia, ...
MR spectroscopy-based brain metabolite profiling in propionic ...
Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period.
Study of HST5040 in Subjects With Propionic or Methylmalonic ...
... Propionic Acidemia Anaplerotic Therapy in Propionic Acidemia Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia. Recruitment ...
Michael A. Barry - Gene Therapy for Propionic Acidemia
This disease causes metabolic acidosis, ketosis, vomiting, lethargy, mental retardation and death. This metabolic decompensation occurs in response to the ...
Propionic Acidemia - Symptoms, Causes, Treatment | NORD
It is characterized by deficiency of propionyl-CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical “building ...
Research reveals new treatment strategy for propionic acidemia
The drugs, called pantazines, would be the first targeted propionic acidemia treatment that is based on managing CoA levels by modulation of ...
Propionic Acidemia | UPMC Children's Hospital Pittsburgh
In children with propionic acidemia, the body cannot break down some types of fat and certain amino acids. Visit our website to learn more.
Propionic Acidemia | Children's Hospital of Philadelphia
In some affected infants, episodes of symptoms may alternate with periods of seemingly normal health. Without appropriate treatment, episodes of vomiting, ...