Kleta, Robert ; Romeo, Elisa ; Ristic, Zorica ; Ohura, Toshihiro ; Stuart, Caroline ; Arcos-Burgos, Mauricio 
; Dave, Mital H ; Wagner, Carsten A ; Camargo, Simone R M ; Inoue, Sumiko ; Matsuura, Norio ; Helip-Wooley, Amanda ; Bockenhauer, Detlef ; Warth, Richard ; Bernardini, Isa ; Visser, Gepke ; Eggermann, Thomas ; Lee, Philip ; Chairoungdua, Arthit ; Jutabha, Promsuk ; Babu, Ellappan ; Nilwarangkoon, Sirinun ; Anzai, Naohiko ; Kanai, Yoshikatsu ; Verrey, Francois ; Gahl, William A ; Koizumi, Akio
; Dave, Mital H ; Wagner, Carsten A ; Camargo, Simone R M ; Inoue, Sumiko ; Matsuura, Norio ; Helip-Wooley, Amanda ; Bockenhauer, Detlef ; Warth, Richard ; Bernardini, Isa ; Visser, Gepke ; Eggermann, Thomas ; Lee, Philip ; Chairoungdua, Arthit ; Jutabha, Promsuk ; Babu, Ellappan ; Nilwarangkoon, Sirinun ; Anzai, Naohiko ; Kanai, Yoshikatsu ; Verrey, Francois ; Gahl, William A ; Koizumi, Akio 
Zusammenfassung
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis(1,2). Using homozygosity mapping in the original family in whom ...
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