14 results on '"Lachmann, Robin"'
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2. Population screening requires robust evidence—genomics is no exception
3. Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
4. Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
5. Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa
6. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
7. PKU in Adults: What do we know?
8. 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
9. Baseline demographics of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in enzyme replacement therapy-experienced adults with late-onset Pompe disease
10. Challenges of whole genome sequencing in population newborn screening.
11. Think metabolic
12. Challenges of using whole genome sequencing in population newborn screening
13. When to suspect inherited metabolic diseases.
14. Challenges of using whole genome sequencing in population newborn screening.
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