Martha C. Faraguna

Monza, Italy

Last Updated: 09/26/2026

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Found 16 publications

Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.

Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.

Journal: Journal of neurology

Published: May 07, 2026

Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation.

Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation.

Journal: Children (Basel, Switzerland)

Published: April 02, 2026

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: December 15, 2025

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: November 09, 2025

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

Journal: Neurology. Genetics

Published: October 31, 2025

A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.

A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.

Journal: Current opinion in immunology

Published: October 18, 2025

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.

Journal: Frontiers in pediatrics

Published: June 10, 2025

Results of orthodontic procedure in a patient with classic infantile Pompe disease.

Results of orthodontic procedure in a patient with classic infantile Pompe disease.

Journal: Italian journal of pediatrics

Published: September 19, 2024

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.

Journal: Nutrients

Published: August 30, 2024

Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.

Journal: Frontiers in endocrinology

Published: December 02, 2023

Hemodynamic evaluation in preterm infants using ultrasonic cardiac output monitor (USCOM).

Hemodynamic evaluation in preterm infants using ultrasonic cardiac output monitor (USCOM).

Journal: European journal of pediatrics

Published: November 30, 2023

Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group.

Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group.

Journal: British journal of haematology

Published: July 21, 2023

Showing 1-12 of 16

Last Updated: 09/26/2026