Robin H. Lachmann

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 100 publications

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Journal: Health technology assessment (Winchester, England)

Published: February 16, 2026

Cardiovascular Morbidity and Mortality in Fabry Disease.

Cardiovascular Morbidity and Mortality in Fabry Disease.

Journal: Circulation. Genomic and precision medicine

Published: February 06, 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.

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

Advances in Therapeutics-Enzyme Replacement Therapy: Long-Term Evaluation and New Approaches.

Advances in Therapeutics-Enzyme Replacement Therapy: Long-Term Evaluation and New Approaches.

Journal: Journal of inherited metabolic disease

Published: August 28, 2025

Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease.

Re-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease.

Journal: PharmacoEconomics

Published: July 30, 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.

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

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.

Journal: Calcified tissue international

Published: June 05, 2025

Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis.

Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis.

Journal: Orphanet journal of rare diseases

Published: March 29, 2025

The cost-effectiveness of enzyme replacement therapies versus best supportive care for treating late onset Pompe disease in the UK NHS.

The cost-effectiveness of enzyme replacement therapies versus best supportive care for treating late onset Pompe disease in the UK NHS.

Journal: The European journal of health economics : HEPAC : health economics in prevention and care

Published: March 29, 2025

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Journal: Hepatology communications

Published: August 06, 2024

When to suspect inherited metabolic diseases.

When to suspect inherited metabolic diseases.

Journal: Practical neurology

Published: June 08, 2024

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Journal: Clinical genetics

Published: April 17, 2024

Showing 1-12 of 100

Last Updated: 09/26/2026