[A family study of the initial Dutch patients with porphyria].
The families of three porphyric patients originally described by Prof. Dr. A.A. Hijmans van den Bergh in the 1920s and of one porphyric patient described by Prof. Dr. I. Snapper in 1920 were traced and investigated to determine the type of the hereditary porphyria in each family. It was possible to confirm that Hijmans van den Bergh and coworkers had described hereditary coproporphyria and variegate porphyria. These were the first descriptions of these types of porphyria. The patient described by Snapper had acute intermittent porphyria.
te Velde
K
K
Noordhoek
K H
KH
Wilson
J H
JH
de Roody
F W
FW
D000328:Adult; D000368:Aged; D003306:Coproporphyrins / Q000032:analysis; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics*; D011524:Protoporphyrins / Q000032:analysis; D012871:Skin Diseases / Q000235:genetics*
D003306:Coproporphyrins; D011524:Protoporphyrins
Een familie-onderzoek bij de eerste Nederlandse patiënten met porfyrie.