Vitamin D deficiency in Serbian patients with Rett syndrome.

Introduction: Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in patients with RTT are scarce.

Newborn screening for cystic fibrosis in Serbia: a pilot study.

Background: We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia.

Methods: Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot samples. Patients were recalled for repeated measurements in case of high IRT levels.

[Very long chain fatty acids in the pathogenesis, prenatal and postnatal diagnosis of X-linked adrenoleukodystrophy].

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of peroxisomal metabolism, biochemically characterized by accumulation of saturated very long chain fatty acids. DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY: The biochemical diagnosis of X-linked adrenoleukodystrophy is done by gas-chromatographic analysis of plasma very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, adrenocortical insufficiency and it may play a role in the pathogenesis of the brain inflammatory response.

X-linked adreno leukodistrophy: Profiles of very long chain fatty acids in plasma and fibroblasts in eigth Serbian patients.

X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette transporters. We investigated eight male X-ALD patients diagnosed among 142 suspected patients referred for investigation.

Urinary catecholamine metabolites: Capillary gas chromatography method and experience with 12 cases of neuroblastoma.

We propose a rapid, simple metodology for routine analysis of human urine to detect vanillylmandelic and homovanillic acid related to neuroblastoma. The assay were specific capillary gas chromatography with flame ionization detection. In this methodology an internal standard is used and the procedure involves ethyl ester formation without isolation of the compounds of interest.