2024-03-28T09:40:35Z
http://repoint.unil.ch/oaiprovider/
oai:serval.unil.ch:BIB_E00A92BEEFB4
2024-03-23T03:06:15Z
serval:BIB_E00A92BEEFB4
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.
10.1111/j.1365-2265.2008.03314.x
18547339
000262636500012
Riepe
F.G.
author
van Bemmelen
M.X.
author
Cachat
F.
author
Plendl
H.
author
Gautschi
I.
author
Krone
N.
author
Holterhus
P.M.
author
Theintz
G.
author
Schild
L.
author
article
casereport
2009
Clinical Endocrinology
1365-2265
0300-0664
journal
70
2
252-258
Alleles
Chlorides/metabolism
Epithelial Sodium Channels/genetics
Female
Heterozygote
Humans
Infant, Newborn
Mutation, Missense/genetics
Pedigree
Phenotype
Pseudohypoaldosteronism/genetics
Pseudohypoaldosteronism/metabolism
Sodium/metabolism
Sweat/metabolism
eng
60_published
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish