Lucia Albano

Naples, 80131, Italy

Last Updated: 09/26/2026

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Found 14 publications

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review.

Journal: Genes

Published: July 21, 2025

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Journal: Orphanet journal of rare diseases

Published: April 20, 2025

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Journal: Orphanet journal of rare diseases

Published: June 17, 2024

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.

Journal: Molecular genetics and metabolism reports

Published: May 27, 2024

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Journal: Genes

Published: March 21, 2023

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.

Journal: Frontiers in pediatrics

Published: March 14, 2022

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Journal: Nutrients

Published: September 24, 2021

Sex Affects Human Premature Neonates' Blood Metabolome According to Gestational Age, Parenteral Nutrition, and Caffeine Treatment.

Sex Affects Human Premature Neonates' Blood Metabolome According to Gestational Age, Parenteral Nutrition, and Caffeine Treatment.

Journal: Metabolites

Published: January 19, 2021

Hypermethioninemia in Campania: Results from 10 years of newborn screening.

Hypermethioninemia in Campania: Results from 10 years of newborn screening.

Journal: Molecular genetics and metabolism reports

Published: September 10, 2019

Targeted metabolomic profiling in rat tissues reveals sex differences.

Targeted metabolomic profiling in rat tissues reveals sex differences.

Journal: Scientific reports

Published: October 04, 2017

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

Journal: Journal of inherited metabolic disease

Published: September 17, 2017

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Journal: Genetics and molecular biology

Published: April 05, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026