Patrizia Brindisino
Biographic Data
| ID | 7860395 |
|---|---|
| NAME | Patrizia Brindisino |
| GIVEN NAMES | Patrizia |
| FAMILY NAME | Brindisino |
| SIGNATURE | BRINDISINO P |
| AFFILIATIONS | University of Chieti-Pescara |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2020 |
| LATEST PUBLICATION YEAR | 2020 |
| H-INDEX | 0 |
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood…
No prominent works on this page.
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood…
Biology (1 work) · Chemistry (1 work) · cobalamin (1 work) · Endocrinology (1 work) · Folate and B Vitamins Research (1 work) · Genetics (1 work) · Internal Medicine (1 work) · Mass spectrometry (1 work) · Medicine (1 work) · Metabolism and Genetic Disorders (1 work)