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M Marangella

Publications and source records attributed to M Marangella.

78 records · Page 5Linked to original sources
PubMedDate not supplied

Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1).

Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of them had already been analyzed by molecular biology. To clarify the molecular characteristics of the AGXT gene disease responsible for PH1, DNA samples were examined for known mutations by hybridisation of PCR products with Sequence Specific Oligonucleotides (PCR-SSO). We planned to identify new mutations of the AGXT gene by heteroduplex analysis followed by direct sequencing. We had already standardized a) the conditions for the amplification of the 11 exons of AGXT, b) the PCR-SSO technique and c) the heteroduplex analysis of amplified products. Preliminary results demonstrated that the AGXT mutations described in previous studies were found only in 40% of the examined Italian patients with PH1. The remaining 60% of mutations should be characterised in future studies.

Child↗
PubMedDate not supplied

Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update.

The hyperoxaluria syndromes can be differentiated by the assessment of associated abnormalities in generation and urine excretion of metabolically related molecules. Based on the experience gained in our laboratory during the last decade, we have developed a comprehensive diagnostic work-up, which includes measurements of oxalate, glycolate and L-glycerate in plasma, urine and dialysis fluids, and an assay for AGT activity on liver biopsy. The availability of reliable assays for each of these parameters is indispensable for the recognition and differentiation of hyperoxalurias. Patients suspected to have abnormalities in oxalate metabolism are first screened by analysing spot urines and serum, and subsequently are subjected to more extensive studies using properly pre-treated blood samples and 24-hour urine collection. AGT activity, in the case of PH1, is assayed on few milligrams liver specimen by using a sensitive chromatographic procedure. Pertinent biochemistries will also assist in the long-term medical follow-up of these patients and in view of the choice of renal replacement or transplantation strategies.

Diagnosis, Differential↗