Biotinidase deficiency is the primary defect in most individuals with late‐onset multiple
carboxylase deficiency. We have reviewed the presenting clinical features of 31 children with the …

To better understand the genetic disorder Sjögren–Larsson syndrome which is caused by a
deficiency of fatty aldehyde dehydrogenase activity, we determined the subcellular …

Neonatal screening for profound biotinidase deficiency (<10% of the mean normal activity
level) has identified a group of children with partial biotinidase deficiency (10% to 30% of …

Cannabinoid CB 1 receptors (CB 1 Rs) mediate the presynaptic effects of endocannabinoids
in the central nervous system (CNS) and most behavioral effects of exogenous …

Biotinidase deficiency is an autosomal‐recessive disorder of biotin recycling. Children with
profound biotinidase deficiency usually have neurological and cutaneous symptoms in early …

Background The nuclear receptor liver X receptor (LXR) exerts transcriptional control over
lipid metabolism and inflammatory response in cells of the myeloid lineage, suggesting that …

Neuropathy is major source of chronic pain that can be caused by mechanically or chemically
induced nerve injury. Intraplantar formalin injection produces local necrosis over a two-…

We describe a method for more accurately determining residual biotinidase activity in sera of
individuals with profound biotinidase deficiency. Using this method we found that there is a …

The cancer recognition (CARE) antibody (Ab) test is a serologic assay for a specific IgM that
is elevated in cancer patients. All tests are measured using an indirect enzyme-linked …

We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency.
Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the …