Anja F. Kohn
Hamburg, HH, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases.
Journal: Frontiers in neurology
Published: August 22, 2025
Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease.
Journal: Orphanet journal of rare diseases
Published: December 09, 2024
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Journal: Orphanet journal of rare diseases
Published: August 07, 2024
Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain.
Journal: Scientific reports
Published: September 11, 2022
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Journal: The Journal of clinical investigation
Published: September 02, 2022
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
Journal: The Journal of pediatrics
Published: January 05, 2022
Mandibular condyle morphology among patients with mucopolysaccharidosis: An observational study of panoramic radiographs.
Journal: International journal of paediatric dentistry
Published: January 31, 2021
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.
Journal: Molecular genetics and metabolism reports
Published: December 18, 2019
Retinal hyperreflective foci in Fabry disease.
Journal: Orphanet journal of rare diseases
Published: August 19, 2019
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.
Journal: Paediatric anaesthesia
Published: April 26, 2019
Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation.
Journal: Sleep & breathing = Schlaf & Atmung
Published: March 30, 2019
Last Updated: 09/26/2026