Francesco Baldo

Trieste, Italy

Last Updated: 09/26/2026

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Found 30 publications

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

Journal: International journal of molecular sciences

Published: June 03, 2026

Selumetinib in the treatment of plexiform neurofibromas in neurofibromatosis type 1: a 6-year prospective case series with review of the literature.

Selumetinib in the treatment of plexiform neurofibromas in neurofibromatosis type 1: a 6-year prospective case series with review of the literature.

Journal: BMC pediatrics

Published: December 13, 2025

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Journal: Genes

Published: April 19, 2025

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.

From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome.

Journal: Frontiers in immunology

Published: April 14, 2025

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Journal: Genes

Published: April 10, 2025

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

Journal: International journal of molecular sciences

Published: February 26, 2025

Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort analysis.

Minimizing unnecessary brain magnetic resonance imaging in pediatric endocrinology: a retrospective cohort analysis.

Journal: Frontiers in endocrinology

Published: June 28, 2024

A persistent torticollis.

A persistent torticollis.

Journal: Archives of disease in childhood. Education and practice edition

Published: June 21, 2024

Red Flags in the Evaluation of the Tiptoeing Child.

Red Flags in the Evaluation of the Tiptoeing Child.

Journal: Journal of paediatrics and child health

Published: November 13, 2023

Respiratory function in children and young adults affected by neurofibromatosis type 1 treated with selumetinib.

Respiratory function in children and young adults affected by neurofibromatosis type 1 treated with selumetinib.

Journal: Italian journal of pediatrics

Published: November 10, 2023

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.

Journal: Children (Basel, Switzerland)

Published: August 18, 2023

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.

Journal: Neuromuscular disorders : NMD

Published: April 27, 2023

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Last Updated: 09/26/2026