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  2. Details for: The natural history of classic galactosemia: lessons from the GalNet registry.
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The natural history of classic galactosemia: lessons from the GalNet registry. [electronic resource]

By:
  • Rubio-Gozalbo, M E
Contributor(s):
  • Haskovic, M
  • Bosch, A M
  • Burnyte, B
  • Coelho, A I
  • Cassiman, D
  • Couce, M L
  • Dawson, C
  • Demirbas, D
  • Derks, T
  • Eyskens, F
  • Forga, M T
  • Grunewald, S
  • Häberle, J
  • Hochuli, M
  • Hubert, A
  • Huidekoper, H H
  • Janeiro, P
  • Kotzka, J
  • Knerr, I
  • Labrune, P
  • Landau, Y E
  • Langendonk, J G
  • Möslinger, D
  • Müller-Wieland, D
  • Murphy, E
  • Õunap, K
  • Ramadza, D
  • Rivera, I A
  • Scholl-Buergi, S
  • Stepien, K M
  • Thijs, A
  • Tran, C
  • Vara, R
  • Visser, G
  • Vos, R
  • de Vries, M
  • Waisbren, S E
  • Welsink-Karssies, M M
  • Wortmann, S B
  • Gautschi, M
  • Treacy, E P
  • Berry, G T
Producer: 20191125Description: 86 p. digitalISSN:
  • 1750-1172
Subject(s):
  • Adolescent
  • Adult
  • Cohort Studies
  • Female
  • Galactosemias -- genetics
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation -- genetics
  • Neonatal Screening
  • Registries
  • Retrospective Studies
  • UTP-Hexose-1-Phosphate Uridylyltransferase -- genetics
  • Young Adult
Online resources:
  • Available from publisher's website
In: Orphanet journal of rare diseases vol. 14
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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The natural history of classic galactosemia: lessons from the GalNet registry.

APA

Rubio-Gozalbo M. E., Haskovic M., Bosch A. M., Burnyte B., Coelho A. I., Cassiman D., Couce M. L., Dawson C., Demirbas D., Derks T., Eyskens F., Forga M. T., Grunewald S., Häberle J., Hochuli M., Hubert A., Huidekoper H. H., Janeiro P., Kotzka J., Knerr I., Labrune P., Landau Y. E., Langendonk J. G., Möslinger D., Müller-Wieland D., Murphy E., Õunap K., Ramadza D., Rivera I. A., Scholl-Buergi S., Stepien K. M., Thijs A., Tran C., Vara R., Visser G., Vos R., de Vries M., Waisbren S. E., Welsink-Karssies M. M., Wortmann S. B., Gautschi M., Treacy E. P. & Berry G. T. (20191125). The natural history of classic galactosemia: lessons from the GalNet registry. : Orphanet journal of rare diseases.

Chicago

Rubio-Gozalbo M E, Haskovic M, Bosch A M, Burnyte B, Coelho A I, Cassiman D, Couce M L, Dawson C, Demirbas D, Derks T, Eyskens F, Forga M T, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper H H, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau Y E, Langendonk J G, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera I A, Scholl-Buergi S, Stepien K M, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren S E, Welsink-Karssies M M, Wortmann S B, Gautschi M, Treacy E P and Berry G T. 20191125. The natural history of classic galactosemia: lessons from the GalNet registry. : Orphanet journal of rare diseases.

Harvard

Rubio-Gozalbo M. E., Haskovic M., Bosch A. M., Burnyte B., Coelho A. I., Cassiman D., Couce M. L., Dawson C., Demirbas D., Derks T., Eyskens F., Forga M. T., Grunewald S., Häberle J., Hochuli M., Hubert A., Huidekoper H. H., Janeiro P., Kotzka J., Knerr I., Labrune P., Landau Y. E., Langendonk J. G., Möslinger D., Müller-Wieland D., Murphy E., Õunap K., Ramadza D., Rivera I. A., Scholl-Buergi S., Stepien K. M., Thijs A., Tran C., Vara R., Visser G., Vos R., de Vries M., Waisbren S. E., Welsink-Karssies M. M., Wortmann S. B., Gautschi M., Treacy E. P. and Berry G. T. (20191125). The natural history of classic galactosemia: lessons from the GalNet registry. : Orphanet journal of rare diseases.

MLA

Rubio-Gozalbo M E, Haskovic M, Bosch A M, Burnyte B, Coelho A I, Cassiman D, Couce M L, Dawson C, Demirbas D, Derks T, Eyskens F, Forga M T, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper H H, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau Y E, Langendonk J G, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera I A, Scholl-Buergi S, Stepien K M, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren S E, Welsink-Karssies M M, Wortmann S B, Gautschi M, Treacy E P and Berry G T. The natural history of classic galactosemia: lessons from the GalNet registry. : Orphanet journal of rare diseases. 20191125.

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