Karolina M. Stepien

Stott Lane
Salford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 118 publications

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal: Journal of inherited metabolic disease

Published: July 01, 2026

The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study.

The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study.

Journal: JIMD reports

Published: April 21, 2026

Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG).

Management of pregnancy and outcomes in a woman with mannose-6-phosphate isomerase deficiency (MPI-CDG).

Journal: Molecular genetics and metabolism reports

Published: March 03, 2026

Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype.

Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype.

Journal: Molecular genetics and metabolism

Published: February 21, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease

Published: January 16, 2026

Heritability of Long-Term Complications in Classic Galactosemia.

Heritability of Long-Term Complications in Classic Galactosemia.

Journal: Journal of inherited metabolic disease

Published: December 19, 2025

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.

Journal: American journal of medical genetics. Part A

Published: December 19, 2025

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.

Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.

Journal: JIMD reports

Published: November 24, 2025

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.

Journal: Molecular genetics and metabolism reports

Published: November 01, 2025

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Journal: Journal of inherited metabolic disease

Published: October 24, 2025

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.

Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.

Journal: Molecular genetics and metabolism reports

Published: October 14, 2025

Vascular complications and imaging-based cardiovascular risk assessment in Mucopolysaccharidoses: A systematic review.

Vascular complications and imaging-based cardiovascular risk assessment in Mucopolysaccharidoses: A systematic review.

Journal: Molecular genetics and metabolism

Published: September 20, 2025

Showing 1-12 of 118

Last Updated: 09/26/2026