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Items: 1 to 20 of 131

1.

Novel mutations in 13 probands with galactokinase deficiency.

Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D.

Hum Mutat. 2000;15(5):447-53.

PMID:
10790206
2.

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R.

Am J Hum Genet. 1999 Nov;65(5):1299-307.

3.

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L.

Hum Mutat. 2001;17(1):77-8.

PMID:
11139256
4.

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G.

J Hum Genet. 1999;44(6):377-82.

PMID:
10570908
5.

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Sangiuolo F, Magnani M, Stambolian D, Novelli G.

Hum Mutat. 2004 Apr;23(4):396.

PMID:
15024738
6.

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.

Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ.

Nat Genet. 1995 Jul;10(3):307-12.

PMID:
7670469
7.

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.

Singh R, Ram J, Kaur G, Prasad R.

Curr Eye Res. 2012 Oct;37(10):949-54. doi: 10.3109/02713683.2012.688162. Epub 2012 May 25.

PMID:
22632133
8.

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia.

Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J.

Mol Genet Metab. 1998 Jan;63(1):26-30.

PMID:
9538513
9.

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J.

BMC Med Genet. 2009 Mar 24;10:29. doi: 10.1186/1471-2350-10-29.

10.

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.

Park HD, Bang YL, Park KU, Kim JQ, Jeong BH, Kim YS, Song YH, Song J.

Mol Genet Metab. 2007 Jul;91(3):234-8. Epub 2007 May 22.

PMID:
17517531
11.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
12.

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Söling A, Mönch E, Kulozik AE.

Pediatr Res. 2002 May;51(5):598-601.

PMID:
11978883
13.

[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].

Girós M, Bóveda MD, Vázquez de la Cruz A, Lázaro P, Gata A, Solar Boga A, Briones P.

Arch Soc Esp Oftalmol. 2003 Feb;78(2):111-4. Spanish.

PMID:
12647253
14.

Functional analysis of disease-causing mutations in human galactokinase.

Timson DJ, Reece RJ.

Eur J Biochem. 2003 Apr;270(8):1767-74.

15.
16.

Molecular basis of disorders of human galactose metabolism: past, present, and future.

Novelli G, Reichardt JK.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. Review.

PMID:
11001796
17.

Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.

Hartley A, Glynn SE, Barynin V, Baker PJ, Sedelnikova SE, Verhees C, de Geus D, van der Oost J, Timson DJ, Reece RJ, Rice DW.

J Mol Biol. 2004 Mar 19;337(2):387-98.

PMID:
15003454
18.

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, László A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV.

Pediatr Res. 2002 May;51(5):602-6.

PMID:
11978884
19.

Molecular structure of human galactokinase: implications for type II galactosemia.

Thoden JB, Timson DJ, Reece RJ, Holden HM.

J Biol Chem. 2005 Mar 11;280(10):9662-70. Epub 2004 Dec 7.

20.

[Galactokinase deficiency].

Colin J, Voyer M, Thomas D, Charlas J.

Ann Pediatr (Paris). 1976 May 2;23(5):371-7. Review. French. No abstract available.

PMID:
16104211

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