Results 171 to 180 of about 7,812 (191)

Progressive renal insufficiency in methylmalonic acidemia

Pediatric Nephrology, 1991
Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism. Therapy frequently includes a low-protein diet to minimize precursors of methylmalonic acid (MMA) and reduce its concentration in body tissues. Renal dysfunction in these patients is increasingly recognized.
K H, Molteni, T D, Oberley, J A, Wolff, A L, Friedman   +3 more
openaire   +2 more sources

The Natural History of the Inherited Methylmalonic Acidemias

New England Journal of Medicine, 1983
Six biochemical and genetic forms of methylmalonic acidemia have been defined previously: two (mut degrees and mut-) resulting from defects in the mutase apoenzyme, and four (cbl A, cbl B, cbl C, and cbl D) resulting from deficient adenosylcobalamin synthesis. We retrospectively surveyed the clinical presentation, response to cobalamin supplementation,
S M, Matsui, M J, Mahoney, L E, Rosenberg   +2 more
openaire   +2 more sources

Methylmalonic Acidemia

2022
openaire   +1 more source

Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia

2015
Infants with propionic acidemia (PROP) or methylmalonic acidemia (MMA) can be identified by newborn screening, although those with severe phenotypes may present with symptoms of metabolic ketoacidosis before screening results are available. Nutrition management of PROP or MMA involves limiting intact protein and providing a medical food free of ...
openaire   +1 more source

A Case with Methylmalonic Acidemia

Pediatrics International, 1977
Akira Matsui, Kunio Yoshino, Kenzo Takeshita, Hideki Fukushima   +3 more
openaire   +1 more source

Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia

Ultrastructural Pathology, 2014
Gregory Enns, Anna-Kaisa Niemi
exaly  

The Value of Liver Transplantation for Methylmalonic Acidemia

Frontiers in Pediatrics, 2019
Liying Sun
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

Genetic and genomic systems to study methylmalonic acidemia

Molecular Genetics and Metabolism, 2005
Randy Chandler
exaly  

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

Journal of Pediatric Endocrinology and Metabolism, 2016
Prapai Dejkhamron, Duangrurdee Wattanasirichaigoon, Pranoot Tanpaiboon   +2 more
exaly