Charlie is an international research consortium joining expertise from different countries. In order to understand the key steps for this association workflow we will try to introduce our teams, their work, and their role.

One of our collaborators is the newborn screening, clinical chemistry, and pharmacology laboratory in IRCCS - Meyer Children's Hospital, Florence, Italy. This laboratory with Dr. Della Bona Maria, and Dr. Damiano Roberta, headed by Prof. Giancarlo la Marca, deals with the diagnosis of hereditary metabolic diseases. The latter includes aminoacidopathies, fatty acid beta-oxidation defects, organic acidurias, urea cycle defects, congenital hypothyroidism, biotinidase, and holocarboxylase synthetase deficiency, severe combined immunodeficiencies, lysosomal storage diseases.

In particular, they analyze using high-end technology acylcarnitines/amino acids by FIA-MS/MS (Newborn screening). Also, they investigate Organic acidurias (GA I Glutaric acidemia type I, GA II Glutaric acidemia type II) by using GC-MS and LC-MS. Finally, they study pipecolic acid dosage in plasma or urine by LC-MS/MS.

The research interests of Meyer’s laboratory are the development of new methods and tests for the early diagnosis of inborn errors of metabolism, the development of new clinical biochemistry tests, the development of analytical methods for the therapeutic dosage of drugs, especially neuroactive molecules, pharmacokinetic studies of drugs in pediatric and non-pediatric age.