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Lachmann, Robin
199  results:
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1

Impact of homozygous p.Arg610del genotype on disease burden..:

Wasserstein, Melissa ; Kumar, Monica ; Armstrong, Nicole...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108076 , 2024
Link: https://doi.org/10.1016/..
 
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2

Non‐syndromic retinal dystrophy associated with biallelic v..:

Lin, Siying ; Robson, Anthony G. ; Thompson, Dorothy A....
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Baseline demographics of the UK Early Access to Medicines S..:

Roberts, Mark E. ; Cole, Duncan ; Deegan, Patrick B....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108018 , 2024
Link: https://doi.org/10.1016/..
 
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4

Assessment of health state utilities associated with adult ..:

Matza, Louis S. ; Stewart, Katie D. ; Fournier, Marie...
The European Journal of Health Economics.  , 2024
Link: https://doi.org/10.1007/..
 
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5

Population screening requires robust evidence—genomics is n..:

Turnbull, Clare ; Firth, Helen V ; Wilkie, Andrew O M...
The Lancet.  403 (2024)  10426 - p. 583-586 , 2024
Link: https://doi.org/10.1016/..
 
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6

Improvements in liver and lipid outcomes continue in childr..:

Lachmann, Robin ; Ganesh, Jaya ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107927 , 2024
Link: https://doi.org/10.1016/..
 
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7

Olipudase alfa enzyme replacement therapy reverses intersti..:

Wasserstein, Melissa ; Bonella, Francesco ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108075 , 2024
Link: https://doi.org/10.1016/..
 
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8

Challenges of using whole genome sequencing in population n..:

Horton, Rachel ; Wright, Caroline F ; Firth, Helen V...
BMJ.  , 2024
Link: https://doi.org/10.1136/..
 
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9

Phenylketonuria in adults: what do we know?:

Lachmann, Robin ; Langeveld, Mirjam
The American Journal of Clinical Nutrition.  119 (2024)  4 - p. 870-871 , 2024
Link: https://doi.org/10.1016/..
 
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10

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia.  64 (2023)  6 - p. 1612-1626 , 2023
Link: https://doi.org/10.1111/..
 
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11

Anticipated effects of burosumab treatment on long-term cli..:

Seefried, Lothar ; Duplan, Martin Biosse ; Briot, Karine...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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12

P349: Plasma lyso-sphingomyelin, biomarker for acid sphingo..:

Wasserstein, Melissa ; Giugliani, Roberto ; Jones, Simon...
Genetics in Medicine Open.  1 (2023)  1 - p. 100377 , 2023
Link: https://doi.org/10.1016/..
 
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13

Continued improvement in disease manifestations of acid sph..:

Wasserstein, Melissa P. ; Lachmann, Robin ; Hollak, Carla...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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14

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
Journal of Inherited Metabolic Disease.  , 2023
Link: https://doi.org/10.1002/..
 
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15

Plasma lyso-sphingomyelin as a biomarker for acid sphingomy..:

Wasserstein, Melissa P. ; Giugliani, Roberto ; Jones, Simon...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107355 , 2023
Link: https://doi.org/10.1016/..
 
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