Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of... more 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.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1995
Primary hyperoxaluria (PH) type 1 and type 2 are autosomal recessive defects of oxalate metabolis... more Primary hyperoxaluria (PH) type 1 and type 2 are autosomal recessive defects of oxalate metabolism resulting from glyoxylate accumulation which occurs by two distinct pathways. PH1 is associated to glycolic aciduria; PH2 to L-glyceric aciduria. Because hyperoxaluria leads to nephrolithiasis or nephrocalcinosis in both, they can be differentiated only through detection of the associated acidurias. However, glycolate and L-glycerate assays are not widely available and, in the setting of ESRF, diagnosis is hampered by a number of misleading events. At any stage of the disease diagnosis is crucial because there are differences between the two forms in clinical behaviour, long-term prognosis, and treatment. In this paper we outline diagnostic criteria for identification of PH2 in two patients, one with maintained renal function and one with ESRF on CPD, based on the use of a novel HPLC assay of L-glycerate in different body fluids. With the routine application of this procedure PH2 has b...
... Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D (2000)... more ... Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D (2000) Partial deletion of the AGXT gene ... O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P (1998) Blind ...
Abstract INTRODUCTION AND AIMS: There is currently no consensus about the indications for therape... more Abstract INTRODUCTION AND AIMS: There is currently no consensus about the indications for therapeutic apheresis, also due to the lack of large clinical trials. A registry where all the data can be organized and analyzed therefore becomes a priority for all professionals ...
Specimens were collected from 22 Italian patients with primary hyperoxaluria type 1 (PH1). Ten of... more 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.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 1995
Primary hyperoxaluria (PH) type 1 and type 2 are autosomal recessive defects of oxalate metabolis... more Primary hyperoxaluria (PH) type 1 and type 2 are autosomal recessive defects of oxalate metabolism resulting from glyoxylate accumulation which occurs by two distinct pathways. PH1 is associated to glycolic aciduria; PH2 to L-glyceric aciduria. Because hyperoxaluria leads to nephrolithiasis or nephrocalcinosis in both, they can be differentiated only through detection of the associated acidurias. However, glycolate and L-glycerate assays are not widely available and, in the setting of ESRF, diagnosis is hampered by a number of misleading events. At any stage of the disease diagnosis is crucial because there are differences between the two forms in clinical behaviour, long-term prognosis, and treatment. In this paper we outline diagnostic criteria for identification of PH2 in two patients, one with maintained renal function and one with ESRF on CPD, based on the use of a novel HPLC assay of L-glycerate in different body fluids. With the routine application of this procedure PH2 has b...
... Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D (2000)... more ... Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D (2000) Partial deletion of the AGXT gene ... O'Donovan MC, Oefner PJ, Roberts SC, Austin J, Hoogendoorn B, Guy C, Speight G, Upadhyaya M, Sommer SS, McGuffin P (1998) Blind ...
Abstract INTRODUCTION AND AIMS: There is currently no consensus about the indications for therape... more Abstract INTRODUCTION AND AIMS: There is currently no consensus about the indications for therapeutic apheresis, also due to the lack of large clinical trials. A registry where all the data can be organized and analyzed therefore becomes a priority for all professionals ...
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Papers by M. Marangella