Concepedia

Outcomes of Siblings with Classical Galactosemia

Joanne Hughes, Stephanie Ryan, Deborah M. Lambert, Olivia Geoghegan, Anne Clark, Yvonne Rogers, Una Hendroff, Ahmad Monavari, Eilish Twomey, Eileen P. Treacy

The Journal of Pediatrics · 2009 · 134 citations · 22 references

DOI

Concepts

References

22

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

Darrel Waggoner, Neil R.M. Buist, George N. Donnell · Journal of Inherited Metabolic Disease · 1989 · 532 citations

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Long-term outcome in 134 patients with galactosaemia

S. Schweitzer, Y. S. Shin, C. Jakobs et al. · European Journal of Pediatrics · 1993 · 227 citations

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Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia

Gerard T. Berry, Itzhak Nissim, A. Mazur et al. · The Lancet · 1995 · 201 citations · Full text

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells

Kent Lai · Glycobiology · 2003 · 110 citations · Full text

, , +16

Cognitive functioning, neurologic status and brain imaging in classical galactosemia

Francine Kaufman, Cammie McBride-Chang, Franklin R. Manis et al. · European Journal of Pediatrics · 1995 · 94 citations

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