Results 131 to 140 of about 11,139 (183)

[Molecular basis of organic acidemia--propionic acidemia].

Human cell, 1991
Propionic acidemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC: E. C. 6. 4. 1. 3.). We have detected three types of mutation in the same exon of the coding sequence of beta-subunit of PCC (beta PCC) from two ethnic background (Caucasians and Japanese): an insertion/deletion which replaces 14 ...
T, Tahara, Y, Eto, J P, Kraus, L E, Rosenberg   +3 more
openaire   +1 more source

Propionic acidemia without acidemia: a case report.

Journal of perinatology : official journal of the California Perinatal Association, 1995
Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. Metabolic acidosis is a key feature of this disease and is useful in differentiating it from nonketotic hyperglycinemia.
R, Ramachandran, J, Pietz
openaire   +1 more source

Methylmalonic Acidemia

2017
Isolated methylmalonic acidemia (MMA) refers to a group of inborn errors of organic acid metabolism caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA. Individuals with MMA experience both acute and chronic neurological complications. The pathophysiology likely reflects impaired energy metabolism in the mitochondria leading to neuronal ...
Siddharth Srivastava, Jeffrey Chinsky
openaire   +1 more source

Acidemia Metilmalónica

2016
Presentamos el caso de una mujer de 20 años que acude a nuestra consulta por tics motores y fónicos que empeoran con el nerviosismo y desaparecen con el sueño y maniobras de distracción. Se deriva al hospital y se decide su ingreso. Al revisar sus antecedentes observamos que había sido ingresado en varias ocasiones durante su infancia antes de ser ...
Buller Viqueira, Eva, Muñoz Peralta, Francisca, Cabello Pulido, Juana   +2 more
openaire   +2 more sources

The Association of Fetal Acidemia With Adverse Neonatal Outcomes at Time of Scheduled Cesarean Delivery

American Journal of Obstetrics and Gynecology, 2022
Alison G Cahill, Anthony O Odibo
exaly  

Parenteral nutrition in propionic acidemia and methylmalonic acidemia

The Journal of Pediatrics, 1990
J.H. Walter, J.V. Leonard, G.N. Thompson, D. Halliday   +3 more
openaire   +1 more source

Glutaric Acidemia Type I And 2-Ketoadipic Acidemia

2005
Abstract Glutaric acidemia type I (GAI), first described in 1975 by Goodman et al., is one of several rare autosomal recessive organic acidemias caused by a defect in the pathways of amino acid catabolism. It was designated “type I” to distinguish it from glutaric acidemia type II, or multiple acyl-coenzyme A (CoA) dehydrogenase ...
openaire   +1 more source

Glutamic Acidemia

2015
H L, Teijema, A M, Brubakk, H H, van Gelderen, J H, Ruys   +3 more
openaire   +2 more sources

Isovaleric Acidemia

Archives of Pediatrics & Adolescent Medicine, 1967
openaire   +2 more sources

Succinic acidemia is not a new syndrome of organic acidemia

Clinica Chimica Acta, 1990
Orly N. Elpeleg, Haggit Hurvitz
openaire   +1 more source