Can H. Ficicioglu

Medical Genetics | Pediatrics | Physiatry

3401 Civic Ctr Blvd
Philadelphia, PA 19104

Last Updated: 09/26/2026

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Found 98 publications

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.

Journal: The New England journal of medicine

Published: May 13, 2026

Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.

Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.

Journal: Molecular genetics and metabolism

Published: April 13, 2026

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Liver MR elastography in Gaucher disease: Longitudinal association with disease severity.

Journal: Molecular genetics and metabolism

Published: February 11, 2026

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Journal: Journal of clinical medicine

Published: January 19, 2026

Breaking Barriers in Mucopolysaccharidosis Type II.

Breaking Barriers in Mucopolysaccharidosis Type II.

Journal: The New England journal of medicine

Published: December 30, 2025

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.

Journal: Journal of inherited metabolic disease

Published: October 09, 2025

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Journal: Orphanet journal of rare diseases

Published: August 06, 2025

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.

Journal: Molecular genetics and metabolism reports

Published: August 04, 2025

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.

Journal: International journal of neonatal screening

Published: July 18, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Showing 1-12 of 98

Last Updated: 09/26/2026