Show
Sort by
-
An infant with large amounts of several N-acetylated amino acids in the urine has aminoacylase 1 deficiency.
-
Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
-
Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
-
Aminoacylase I deficiency: A novel inborn error of metabolism
-
Familial male lethal incontinentia pigmenti: a rare cause of recurring spontaneous abortions
-
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
-
Analysis of the mitochondrial encoded subunits of complex 1 in 20 patients with a complex 1 deficiency
-
Combination of proteomic techniques as powerful tool in the search for the underlying defect in OXPROS complex deficiencies
-
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene
-
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II