- 3-Methylglutaconic
aciduria (MGA) is any of at
least five
metabolic disorders that
impair the body's
ability to make
energy in the mitochondria. As a result...
-
Methylmalonic acidemias, also
called methylmalonic acidurias, are a
group of
inherited metabolic disorders, that
prevent the body from
properly breaking...
- Jakobs,
Cornelis (2012). "Progress in
understanding 2-hydroxyglutaric
acidurias".
Journal of
Inherited Metabolic Disease. 35 (4): 571–587. doi:10.1007/s10545-012-9462-5...
- "Hudson
Memorial Lecture Neonatal Management of
Organic Acidurias.
Clinical Update".
Organic Acidurias. Vol. 7. pp. 2–9. doi:10.1007/978-94-009-5612-4_2....
-
Orotic aciduria (AKA
hereditary orotic aciduria) is a
disease caused by an
enzyme deficiency,
resulting in a
decreased ability to
synthesize pyrimidines...
- clínica de
aciduria glutárica tipo I.
Informe de una
nueva mutación" [In
Utero Macrocephaly as
Clinical Manifestation of
Glutaric Aciduria Type I. Report...
-
Combined malonic and
methylmalonic aciduria (CMAMMA), also
called combined malonic and
methylmalonic acidemia is an
inherited metabolic disease characterized...
-
Propionic acidemia, also
known as
propionic aciduria or propionyl-CoA
carboxylase deficiency (PCC deficiency), is a rare
autosomal recessive metabolic...
-
basis of
succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric
aciduria)".
American Journal of
Human Genetics. 63 (2): 399–408. doi:10.1086/301964...
- H.; Wevers, Ron A.; Morava, Eva (2010-09-30). "The 3-methylglutaconic
acidurias: what's new?".
Journal of
Inherited Metabolic Disease. 35 (1). Wiley:...
