Aline Cano

Marseille, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 63 publications

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: September 22, 2025

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case report.

Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case report.

Journal: European journal of medical genetics

Published: October 21, 2024

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Journal: Molecular genetics and metabolism

Published: April 29, 2024

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Journal: Orphanet journal of rare diseases

Published: February 06, 2024

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

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Journal: International journal of dermatology

Published: November 29, 2023

Capping Effects on Spin and Charge Excitations in Parent and Superconducting Nd_{1-x}Sr_{x}NiO_{2}.

Capping Effects on Spin and Charge Excitations in Parent and Superconducting Nd_{1-x}Sr_{x}NiO_{2}.

Journal: Physical review letters

Published: August 23, 2023

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Journal: Molecular genetics and metabolism

Published: July 27, 2023

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Journal: European journal of neurology

Published: January 05, 2023

Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.

Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.

Journal: Developmental neuropsychology

Published: January 03, 2023

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.

Journal: Orphanet journal of rare diseases

Published: October 17, 2022

Showing 1-12 of 63

Last Updated: 09/26/2026