Concepedia

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

Sarah Adam, Manuela Almeida, Eartha Weber, Helena Champion, Hsiao‐Lung Chan, Anne Daly, Marjorie Dixon, Katharina Dokoupil, Delphine Egli, Sharon Evans,

Molecular Genetics and Metabolism · 2013 · 25 citations · 26 references

DOI

Concepts

References

26

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

, , +10

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

The natural history of vascular disease in homocystinuria and the effects of treatment

D. E. L. Wilcken, Bridget Wilcken · Journal of Inherited Metabolic Disease · 1997 · 226 citations

, , +12

Homocystinuria due to cystathionine β‐synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

S. Yap, E. R. Naughten · Journal of Inherited Metabolic Disease · 1998 · 151 citations

, , +15

Newborn screening for homocystinuria: Irish and world experience

E. R. Naughten, S. Yap, Philip Mayne · European Journal of Pediatrics · 1998 · 122 citations

, , +11