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Robin Lachmann

Showing results (31-40 of 55) with videos related to

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Lancet (London, England)|December 9, 2023
Population screening requires robust evidence-genomics is no exceptionClare Turnbull, Helen V Firth, Andrew O M Wilkie, et al.
Journal of Inherited Metabolic Disease|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemiaCecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Hepatology Communications|January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individualsPramod K Mistry, David Cassiman, Simon A Jones, et al.
Orphanet Journal of Rare Diseases|August 18, 2018
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trialsMario Cortina-Borja, Danielle Te Vruchte, Eugen Mengel, et al.
Clinical Genetics|June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activitySiying Lin, Anthony G Robson, Dorothy A Thompson, et al.
Circulation. Cardiovascular Imaging|June 2, 2018
Cardiac Phenotype of Prehypertrophic Fabry DiseaseSabrina Nordin, Rebecca Kozor, Shanat Baig, et al.
The Lancet. Diabetes & Endocrinology|August 27, 2017
Issues with European guidelines for phenylketonuriaPeter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease|April 29, 2018
Mucolipidosis type III, a series of adult patientsEsmee Oussoren, David van Eerd, Elaine Murphy, et al.
Calcified Tissue International|September 18, 2025
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UKJudith Bubbear, Robin Lachmann, Elaine Murphy, et al.
Circulation. Genomic and Precision Medicine|February 6, 2026
Cardiovascular Morbidity and Mortality in Fabry DiseaseEmanuele Monda, Athanasios Bakalakos, Annamaria Del Franco, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Lancet (London, England)|December 9, 2023
Population screening requires robust evidence-genomics is no exceptionClare Turnbull, Helen V Firth, Andrew O M Wilkie, et al.
Journal of Inherited Metabolic Disease|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemiaCecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Hepatology Communications|January 8, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individualsPramod K Mistry, David Cassiman, Simon A Jones, et al.
Orphanet Journal of Rare Diseases|August 18, 2018
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trialsMario Cortina-Borja, Danielle Te Vruchte, Eugen Mengel, et al.
Clinical Genetics|June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activitySiying Lin, Anthony G Robson, Dorothy A Thompson, et al.
Circulation. Cardiovascular Imaging|June 2, 2018
Cardiac Phenotype of Prehypertrophic Fabry DiseaseSabrina Nordin, Rebecca Kozor, Shanat Baig, et al.
The Lancet. Diabetes & Endocrinology|August 27, 2017
Issues with European guidelines for phenylketonuriaPeter Burgard, Kurt Ullrich, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease|April 29, 2018
Mucolipidosis type III, a series of adult patientsEsmee Oussoren, David van Eerd, Elaine Murphy, et al.
Calcified Tissue International|September 18, 2025
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UKJudith Bubbear, Robin Lachmann, Elaine Murphy, et al.
Circulation. Genomic and Precision Medicine|February 6, 2026
Cardiovascular Morbidity and Mortality in Fabry DiseaseEmanuele Monda, Athanasios Bakalakos, Annamaria Del Franco, et al.
Pageof 6