Disease: Lactic acidosis congenital infantile
- A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
- A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family
- A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report
- A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<em>PDP1</em>) causing pyruvate dehydrogenase complex deficiency
- A Rare Case of Polysplenia Syndrome Associated with Severe Cardiac Malformations and Congenital Alveolar Dysplasia in a One-Month-Old Infant: A Complete Macroscopic and Histopathologic Study
- An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence
- Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene
- Cost effectiveness of universal umbilical cord blood gas and lactate analysis in a tertiary level maternity unit
- Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency
- Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome
- Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions
- Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency
- Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report
- Hereditary myopathies associated with hematological abnormalities
- Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism
- Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency
- Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
- Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes
- Recurrent Liver Failure in an 11-Year-Old Boy
- Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
- Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <em>AIFM1</em> variant
- The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency