The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe

M. Hunter, E. Heyer, F. Austerlitz, D. Angelicheva, V. Nedkova, P. Briones, A. Gata, R. De Pablo, A. Laszlo, N. Bosshard, R. Gitzelmann, A. Tordai, L. Kalmar, C. Szalai, I. Balogh, C. Lupu, A. Corches, G. Popa, A. Perez-Lezaun, Luba Kalaydjieva

Research output: Contribution to journal › Article

30 Citations (Scopus)
Original languageEnglish
Pages (from-to)602-606
JournalPediatric Research
Volume51
Issue number5
DOIs
Publication statusPublished - 2002

Cite this

Hunter, M. ; Heyer, E. ; Austerlitz, F. ; Angelicheva, D. ; Nedkova, V. ; Briones, P. ; Gata, A. ; De Pablo, R. ; Laszlo, A. ; Bosshard, N. ; Gitzelmann, R. ; Tordai, A. ; Kalmar, L. ; Szalai, C. ; Balogh, I. ; Lupu, C. ; Corches, A. ; Popa, G. ; Perez-Lezaun, A. ; Kalaydjieva, Luba. / The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe. In: Pediatric Research. 2002 ; Vol. 51, No. 5. pp. 602-606.
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title = "The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe",
author = "M. Hunter and E. Heyer and F. Austerlitz and D. Angelicheva and V. Nedkova and P. Briones and A. Gata and {De Pablo}, R. and A. Laszlo and N. Bosshard and R. Gitzelmann and A. Tordai and L. Kalmar and C. Szalai and I. Balogh and C. Lupu and A. Corches and G. Popa and A. Perez-Lezaun and Luba Kalaydjieva",
year = "2002",
doi = "10.1203/00006450-200205000-00010",
language = "English",
volume = "51",
pages = "602--606",
journal = "Pediatric Research: international journal of human developmental biology",
issn = "0031-3998",
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Hunter, M, Heyer, E, Austerlitz, F, Angelicheva, D, Nedkova, V, Briones, P, Gata, A, De Pablo, R, Laszlo, A, Bosshard, N, Gitzelmann, R, Tordai, A, Kalmar, L, Szalai, C, Balogh, I, Lupu, C, Corches, A, Popa, G, Perez-Lezaun, A & Kalaydjieva, L 2002, 'The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe' Pediatric Research, vol. 51, no. 5, pp. 602-606. https://doi.org/10.1203/00006450-200205000-00010

The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe. / Hunter, M.; Heyer, E.; Austerlitz, F.; Angelicheva, D.; Nedkova, V.; Briones, P.; Gata, A.; De Pablo, R.; Laszlo, A.; Bosshard, N.; Gitzelmann, R.; Tordai, A.; Kalmar, L.; Szalai, C.; Balogh, I.; Lupu, C.; Corches, A.; Popa, G.; Perez-Lezaun, A.; Kalaydjieva, Luba.

In: Pediatric Research, Vol. 51, No. 5, 2002, p. 602-606.

Research output: Contribution to journal › Article

TY - JOUR

T1 - The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe

AU - Hunter, M.

AU - Heyer, E.

AU - Austerlitz, F.

AU - Angelicheva, D.

AU - Nedkova, V.

AU - Briones, P.

AU - Gata, A.

AU - De Pablo, R.

AU - Laszlo, A.

AU - Bosshard, N.

AU - Gitzelmann, R.

AU - Tordai, A.

AU - Kalmar, L.

AU - Szalai, C.

AU - Balogh, I.

AU - Lupu, C.

AU - Corches, A.

AU - Popa, G.

AU - Perez-Lezaun, A.

AU - Kalaydjieva, Luba

PY - 2002

Y1 - 2002

U2 - 10.1203/00006450-200205000-00010

DO - 10.1203/00006450-200205000-00010

M3 - Article

VL - 51

SP - 602

EP - 606

JO - Pediatric Research: international journal of human developmental biology

JF - Pediatric Research: international journal of human developmental biology

SN - 0031-3998

IS - 5

ER -

Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P et al. The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe. Pediatric Research. 2002;51(5):602-606. https://doi.org/10.1203/00006450-200205000-00010

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