Giancarlo La Marca

Florence, 50139, Italy

Last Updated: 09/26/2026

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Found 133 publications

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Journal: International journal of neonatal screening

Published: May 07, 2026

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.

Journal: International journal of neonatal screening

Published: April 30, 2026

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.

Journal: Molecular genetics and metabolism

Published: February 20, 2026

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 04, 2026

Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey.

Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey.

Journal: The journal of allergy and clinical immunology. In practice

Published: November 17, 2025

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Journal: Scientific reports

Published: October 31, 2025

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.

Journal: International journal of neonatal screening

Published: August 04, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

Liver-directed lentiviral gene therapy confers durable hepatic and systemic amelioration of methylmalonic acidemia in mice.

Liver-directed lentiviral gene therapy confers durable hepatic and systemic amelioration of methylmalonic acidemia in mice.

Journal: Journal of hepatology

Published: March 28, 2025

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

Journal: International journal of neonatal screening

Published: March 11, 2025

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.

Journal: International journal of molecular sciences

Published: March 06, 2025

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Journal: European journal of neurology

Published: December 04, 2024

Showing 1-12 of 133

Last Updated: 09/26/2026