Concepedia

Autosomal recessive chronic granulomatous disease associated with 18q- syndrome and end-stage renal failure due to Henoch-Schönlein nephritis

Jan Kimpen, Rita Van Damme‐Lombaerts, Greet Van den Berghe, Willem Proesmans

European Journal of Pediatrics · 1991 · 11 citations · 11 references

References

11

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1983 · 2.7K citations

Life Sciences, Genetics, Molecular Genetics +13

Smith's Recognizable Patterns of Human Malformation

Enid Gilbert‐Barness · Archives of Pediatrics and Adolescent Medicine · 1998 · 2K citations

Medicine, Otolaryngology, Pediatrics +5

Clinical and chromosomal studies of the 18q-syndrome

Wladimir Wertelecki, Park S. Gerald · The Journal of Pediatrics · 1971 · 90 citations

Life Sciences, Genetics, Molecular Genetics +12

A phosphoprotein of Mr 47,000, defective in autosomal chronic granulomatous disease, copurifies with one of two soluble components required for NADPH:O2 oxidoreductase activity in human neutrophils.

Ben G.J.M. Bolscher, Rob van Zwieten, I M Kramer et al. · Journal of Clinical Investigation · 1989 · 86 citations · Full text

Life Sciences, Biochemistry, Cell Biology +15