Julia B. Hennermann - Publications

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal: Journal of inherited metabolic disease

Published: March 11, 2026

Alpha-mannosidosis

Journal: MMW Fortschritte der Medizin

Published: February 16, 2026

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.

Journal: Journal of inherited metabolic disease

Published: January 08, 2026

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics

Published: August 31, 2025

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 16, 2025

Retinal microstructual and microvascular changes in mucopolysaccharidoses.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: April 19, 2025

Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.

Journal: Neurological research and practice

Published: March 27, 2025

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Journal: Molecular genetics and metabolism

Published: March 17, 2025

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Journal: Genetics in medicine open

Published: February 26, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.

Journal: Orphanet journal of rare diseases

Published: December 18, 2024

Lysosomal storage disorders - Fabry disease and Gaucher disease

Journal: Deutsche medizinische Wochenschrift (1946)

Published: October 09, 2024