Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Por Mitchell, B, Haigis, E, Steinmann, B, Gitzelmann, R
Publicado em 1975

Egasyn affects the processing of beta-glucuronidase in mouse liver.

Por Pfister, K, Bosshard, N, Zopfi, M, Gitzelmann, R
Publicado em 1988

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

Por Aynsley-Green, A, Williamson, D H, Gitzelmann, R
Publicado em 1977

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Por Schnorf, H, Gitzelmann, R, Bosshard, N U, Spycher, M, Waespe, W
Publicado em 1995

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Por Okano, Y, Wang, T, Eisensmith, R C, Steinmann, B, Gitzelmann, R, Woo, S L
Publicado em 1990

Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

Por Ali, M, Tunçman, G, Cross, N C, Vidailhet, M, Bökesoy, I, Gitzelmann, R, Cox, T M
Publicado em 1994

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

Por Sullivan, S E, Moore, S D, Connor, J M, King, M, Cockburn, F, Steinmann, B, Gitzelmann, R, Daiger, S P, Woo, S L
Publicado em 1989

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Por Orho, M, Bosshard, N U, Buist, N R, Gitzelmann, R, Aynsley-Green, A, Blümel, P, Gannon, M C, Nuttall, F Q, Groop, L C
Publicado em 1998

Multiple origins for phenylketonuria in Europe

Por Eisensmith, R. C., Okano, Y., Dasovich, M., Wang, T., Güttler, F., Lou, H., Guldberg, P., Lichter-Konecki, U., Konecki, D. S., Svensson, E., Hagenfeldt, L., Rey, F., Munnich, A., Lyonnet, S., Cockburn, F., Connor, J. M., Pembrey, M. E., Smith, I., Gitzelmann, R., Steinmann, B., Apold, J., Eiken, H. G., Giovannini, M., Riva, E., Longhi, R., Romano, C., Cerone, R., Naughten, E. R., Mullins, C., Cahalane, S., Özalp, I., Fekete, G., Schuler, D., Berencsi, G. Y., Nász, I., Brdicka, R., Kamaryt, J., Pijackova, A., Cabalska, B., Boszkowa, K., Schwartz, E., Kalinin, V. N., Jin, L., Chakraborty, R., Woo, S. L. C.
Publicado em 1992