Index of suspicion.
Ferrarini
Alessandra
A
Department of Pediatrics, Ospedale Bellinzona and Mendrisio, University of Lausanne, Switzerland.
Ramelli
Gian Paolo
GP
Bianchetti
Mario G
MG
Hedman
Jamie
J
Sharathkumar
Anjali
A
Shapiro
Amy
A
Bourland
Christina
C
D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis*; D035583:Rare Diseases; D018570:Risk Assessment; D012494:Sampling Studies; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000628:therapy