Liborio Stuppia
Biographic Data
| ID | 5461133 |
|---|---|
| NAME | Liborio Stuppia |
| GIVEN NAMES | Liborio |
| FAMILY NAME | Stuppia |
| SIGNATURE | STUPPIA L |
| AFFILIATIONS | University of Chieti-Pescara |
| ORCID | 0000-0002-6232-0996 |
| VERIFIED | Yes |
| TOTAL WORKS | 6 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 6 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2021 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated
Background: Gaucher disease (GD) is an autosomal recessive lysosomal disease. Extended neonatal screening currently includes GD in several different regions. Decision on when to start enzyme replacement therapy (ERT) upon confirmed diagnosis or upon appearance of first clinical manifestation of the disease remains an unmet need. Methods: We report our preliminary experience in tightly monitoring blood levels of glucosyl-sphingosine (lyso-Gb1), on…
The Role of Platelet-Rich Plasma on the Chondrogenic and Osteogenic Differentiation of Human Amniotic-Fluid-Derived Stem Cells
Amniotic fluid represents a new and promising source of engraftable stem cells. The purpose of this study was to investigate the in vitro effects of platelet-rich plasma (PRP) on amniotic-fluid-derived stem cells (AFSCs) on chondrogenic or osteogenic differentiation potential. Amniotic fluid samples were obtained from women undergoing amniocentesis for prenatal diagnosis at 16-18 weeks of pregnancy. Undifferentiated human AFSCs were cocultured wi…
A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency
Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes invol…
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS…
Passive Immunity to Sars-CoV-2 at Birth Induced by Vaccination in the First Trimester of Pregnancy
As is well known, the COVID-19 infection is affecting the whole world, causing a serious health, social and economic crisis. The viral infection can cause a mild or severe illness, depending on how effectively the virus is countered by the immune system. In this context, the position of pregnant women remains rather unknown. The case described here reports the immune response in a woman in good health and in her newborn son, having undergone comp…
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency …
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Passive Immunity to Sars-CoV-2 at Birth Induced by Vaccination in the First Trimester of Pregnancy
As is well known, the COVID-19 infection is affecting the whole world, causing a serious health, social and economic crisis. The viral infection can cause a mild or severe illness, depending on how effectively the virus is countered by the immune system. In this context, the position of pregnant women remains rather unknown. The case described here reports the immune response in a woman in good health and in her newborn son, having undergone comp…
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency …
The Role of Platelet-Rich Plasma on the Chondrogenic and Osteogenic Differentiation of Human Amniotic-Fluid-Derived Stem Cells
Amniotic fluid represents a new and promising source of engraftable stem cells. The purpose of this study was to investigate the in vitro effects of platelet-rich plasma (PRP) on amniotic-fluid-derived stem cells (AFSCs) on chondrogenic or osteogenic differentiation potential. Amniotic fluid samples were obtained from women undergoing amniocentesis for prenatal diagnosis at 16-18 weeks of pregnancy. Undifferentiated human AFSCs were cocultured wi…
A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency
Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes invol…
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy
Biotinidase deficiency (BD) is an autosomal recessive inherited disorder in which the enzyme biotinidase is totally or partially defective and the vitamin biotin is not recycled. BD meets the major criteria for a population screening program. Newborn bloodspot screening (NBS) allows early diagnosis of BD, thus preventing the high morbidity and mortality associated with untreated disease. Both profound and partial BD variant can be detected by NBS…
Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated
Background: Gaucher disease (GD) is an autosomal recessive lysosomal disease. Extended neonatal screening currently includes GD in several different regions. Decision on when to start enzyme replacement therapy (ERT) upon confirmed diagnosis or upon appearance of first clinical manifestation of the disease remains an unmet need. Methods: We report our preliminary experience in tightly monitoring blood levels of glucosyl-sphingosine (lyso-Gb1), on…
Biology (6 works) · Medicine (5 works) · Biochemistry (3 works) · Pediatrics (3 works) · Biotin (2 works) · Biotin and Related Studies (2 works) · Biotinidase deficiency (2 works) · Chemistry (2 works) · Dried blood spot (2 works) · Gene (2 works)