Disease: Finnish lethal neonatal metabolic syndrome
- A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION
- A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
- Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37
- BCS1L gene mutation causing GRACILE syndrome: case report
- Clinical and biochemical features associated with BCS1L mutation
- Complex III staining in blue native polyacrylamide gels
- Effect of caring leadership intervention program for first-line nurse managers on their managerial actions and nurse outcomes
- Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency
- Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
- GRACILE syndrome--a severe neonatal mitochondrial disorder
- GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
- Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
- Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
- Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
- The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy
- The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload