Robin Lachmann - National Hospital for Neurology and Neurosurgery, University College London Hospitals

基本信息

Career Trajectory

Bio

Research interests Inherited metabolic diseases Lysosomal storage diseases Professional background Chair, metabolic disorders clinical reference group Chair of the scientific committee of the Recordati Rare Diseases Academy Member of fetal, maternal and child health reference group of the National Screening Committee

Research Interests

Papers共 195 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

P206: Continued Clinical Improvements in Adults with Acid Sphingomyelinase Deficiency after 3-5 Years of Olipudase Alfa Treatment: Final ASCEND Trial Results

Melissa Wasserstein, Renata Gallagher, Antonio Barbato,Roberto Giugliani,Norberto Guelbert, Julia Hennermann,Takayuki Ikezoe,Robin Lachmann, Olivier Lidove,Paulina Mabe,Eugen Mengel,Maurizio Scarpa,Ebubekir Senates,Michel Tchan,Jesus Villarrubia,Beth Thurberg, Nicole Armstrong, Shruti Srivastava, Urszula Wisniewska, Monica Kumar

Genetics in Medicine Open (2025): 102171

Cited0Views0Bibtex

O33: Impact of P.arg610del Neuroprotective Genotype on Disease Burden and Treatment Response in Adults with Acid-Sphingomyelinase Deficiency: ASCEND Olipudase Alfa Trial

Melissa Wasserstein, Monica Kumar, Nicole Armstrong, Sefika Uslu Cil, Arya Firoozan, Lisa Underhill,Robin Lachmann

Genetics in Medicine Open (2025): 102109

Cited0Views0Bibtex

Acid Sphingomyelinase Deficiency and Gaucher Disease: Underdiagnosed and Often Treatable Causes of Hepatomegaly, Splenomegaly, and Low HDL Cholesterol in Lean Individuals

Pramod K. Mistry,David Cassiman,Simon A. Jones,Robin Lachmann,Elena Lukina,Carlos E. Prada,Melissa P. Wasserstein,Beth L. Thurberg,Meredith C. Foster, Reema M. Patel,Lisa H. Underhill,M. Judith Peterschmitt

HEPATOLOGY COMMUNICATIONSno. 1 (2025)

Cited0Views0WOSBibtex

Assessment of Health State Utilities Associated with Adult and Pediatric Acid Sphingomyelinase Deficiency (ASMD)

Louis S. Matza,Katie D. Stewart,Marie Fournier,Donna Rowen,Robin Lachmann,Maurizio Scarpa,Eugen Mengel, Travis Obermeyer, Evren Ayik,Fernando Laredo,Ruth Pulikottil-Jacob

The European Journal of Health Economics（2024）

Cited0Views0WOSBibtex

When to Suspect Inherited Metabolic Diseases

Samuel Shribman,Robin H. Lachmann

PRACTICAL NEUROLOGYno. 5 (2024): 354-356

Cited0Views0WOSBibtex

Sustained Improvement of Interstitial Lung Disease Following Enzyme Replacement Therapy with Olipudase Alfa in Children and Adults with Chronic Acid Sphingomyelinase Deficiency

Melissa Wasserstein,Francesco Bonella,Roberto Giugliani,Robin Lachmann,Imre Noth,Maurizio Scarpa,Wim A. Wuyts,Mario Aguiar,Nicole Armstrong,Monica Kumar,Kenneth Berger

Molecular Genetics and Metabolism（2024）

Cited0Views0Bibtex

Patient Reported Outcomes (pros) from a Real-World Study of Burosumab Treatment in Adults with X-linked Hypophosphatemia (XLH) in the UK

Judith Bubbear,Robin Lachmann,Elaine Murphy, Gauri Krishna, Gavin Clunie,Jennifer Walsh,Marian Schini,Syazrah Salam,Matthew Roy,Leigh Mathieson, Victoria Hayes,Ben Johnson, Daniel Stevens, Rakesh Davda,Annabel Nixon,Mark Nixon,Richard Keen

JOURNAL OF BONE AND MINERAL RESEARCH (2024): 69-69

Cited0Views0Bibtex

Non-syndromic Retinal Dystrophy Associated with Biallelic Variation of SUMF1 and Reduced Leukocyte Sulfatase Activity

Siying Lin,Anthony G. Robson,Dorothy A. Thompson,Derek Burke,Robin Lachmann,Emma Footitt,Karolina M. Stepien,Elena Schiff,Michel Michaelides,Omar Abdul Rahman Mahroo,Gavin Arno,Andrew Webster

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2024）

Cited0Views0WOSBibtex

Improvements in Liver and Lipid Outcomes Continue in Children and Adults with Chronic Acid Sphingomyelinase Deficiency Treated for 2 to 6.5 Years with Olipudase Alfa in Long-Term Clinical Trials

Robin Lachmann,Jaya Ganesh,Roberto Giugliani,Nathalie Guffon,Eugen Mengel,Maurizio Scarpa,Melissa Wasserstein,Mario Aguiar,Nicole Armstrong,Beth L. Thurberg,Monica Kumar

Molecular Genetics and Metabolismno. 2 (2024): 107927

Cited0Views0Bibtex

Inherited Disorders of Metabolism

Elaine Murphy,Charlotte Ellerton,Simon Heales,Robin Lachmann, David Lynch,Robert Pitceathly

Neurologypp.945-985, (2024)

Cited0Views0Bibtex

Author Statistics

Co-Author

Co-Institution

D-Core

合作者
学生
导师

No result temporarily, you can search similar Scholar with the same research interest

Data Disclaimer

The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn