Francesca Furlan

Milan, Italy

Last Updated: 09/26/2026

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Found 33 publications

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.

Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.

Journal: BMC neurology

Published: February 19, 2026

Architecture and dynamics of a supramolecular oxygen transport system in human homogentisate 1,2-Dioxygenase.

Architecture and dynamics of a supramolecular oxygen transport system in human homogentisate 1,2-Dioxygenase.

Journal: Journal of structural biology

Published: February 10, 2026

Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.

Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes.

Journal: European journal of pediatrics

Published: December 11, 2025

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Journal: International journal of neonatal screening

Published: July 08, 2025

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Journal: International journal of neonatal screening

Published: June 25, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Journal: International journal of neonatal screening

Published: February 04, 2025

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Journal: BMJ paediatrics open

Published: October 11, 2024

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Journal: Orphanet journal of rare diseases

Published: December 26, 2023

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Journal: Brain communications

Published: November 29, 2023

Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report.

Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case Report.

Journal: Transplantation proceedings

Published: April 08, 2023

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

Journal: European journal of human genetics : EJHG

Published: February 22, 2023

Showing 1-12 of 33

Last Updated: 09/26/2026