Concepedia

Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy

Jojanneke H.J. Huck, Nanda M. Verhoeven, Eduard A. Struys, Gajja S. Salomons, Cornelis Jakobs, Marjo S. van der Knaap

The American Journal of Human Genetics · 2004 · 151 citations · 21 references

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Concepts

References

21

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst et al. · Nature Genetics · 2001 · 419 citations

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A new leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, P. G. Barth, F.J.M. Gabreëls et al. · Neurology · 1997 · 390 citations · Full text

, , +16

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst et al. · Annals of Neurology · 2001 · 387 citations

, , +14

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

Marjo S. van der Knaap, P. G. Barth, Hans Stroink et al. · Annals of Neurology · 1995 · 344 citations

, , +17

Mechanisms initiating cataract formation. Proctor Lecture.

Jin H. Kinoshita · PubMed · 1974 · 317 citations

, , +14