Related Articles for PubMed (Select 12350230)

The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.

Henderson H, Leisegang F, Brown R, Eley B.

BMC Pediatr. 2002 Sep 2;2:7.

PMID: 12350230 [PubMed - indexed for MEDLINE]

A prevalent mutation for galactosemia among black Americans.

Lai K, Langley SD, Singh RH, Dembure PP, Hjelm LN, Elsas LJ 2nd.

J Pediatr. 1996 Jan;128(1):89-95.

PMID: 8551426 [PubMed - indexed for MEDLINE]

Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.

Schuster V, Podskarbi T, Ottensmeier H, Haubner M, Shin YS.

J Mol Med. 1998 Sep;76(10):715-9.

PMID: 9766850 [PubMed - indexed for MEDLINE]

Biochemical and molecular studies of 132 patients with galactosemia.

Ng WG, Xu YK, Kaufman FR, Donnell GN, Wolff J, Allen RJ, Koritala S, Reichardt JK.

Hum Genet. 1994 Oct;94(4):359-63.

PMID: 7927329 [PubMed - indexed for MEDLINE]

The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.

Mirzajani F, Mirfakhraie R, Nabati F, Tabatabaei NN, Talachian E, Houshmand M.

Clin Biochem. 2006 Jul;39(7):697-9.

PMID: 16765930 [PubMed - indexed for MEDLINE]

Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.

Landt M, Ritter D, Lai K, Benke PJ, Elsas LJ, Steiner RD.

J Pediatr. 1997 Jun;130(6):972-80.

PMID: 9202622 [PubMed - indexed for MEDLINE]

The molecular biology of galactosemia.

Elsas LJ 2nd, Lai K.

Genet Med. 1998 Nov-Dec;1(1):40-8. Review.

PMID: 11261429 [PubMed - indexed for MEDLINE]

Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.

Dobrowolski SF, Banas RA, Suzow JG, Berkley M, Naylor EW.

J Mol Diagn. 2003 Feb;5(1):42-7.

PMID: 12552079 [PubMed - indexed for MEDLINE]

Molecular and biochemical basis of galactosemia.

Wang BB, Xu YK, Ng WG, Wong LJ.

Mol Genet Metab. 1998 Apr;63(4):263-9.

PMID: 9635294 [PubMed - indexed for MEDLINE]

10:

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia.

Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L 2nd, Segal S.

Metabolism. 1999 Oct;48(10):1294-302.

PMID: 10535394 [PubMed - indexed for MEDLINE]

11:

Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes.

Berry GT, Singh RH, Mazur AT, Guerrero N, Kennedy MJ, Chen J, Reynolds R, Palmieri MJ, Klein PD, Segal S, Elsas LJ 2nd.

Pediatr Res. 2000 Sep;48(3):323-8.

PMID: 10960497 [PubMed - indexed for MEDLINE]

12:

Galactosaemia in black South African children.

Ojwang PJ, Manickum T, Deppe WM.

East Afr Med J. 1999 May;76(5):247-50.

PMID: 10750502 [PubMed - indexed for MEDLINE]

13:

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

Gathof BS, Sommer M, Podskarbi T, Reichardt J, Braun A, Gresser U, Shin YS.

Hum Genet. 1995 Dec;96(6):721-5.

PMID: 8522334 [PubMed - indexed for MEDLINE]

14:

[Identification of inborn errors of galactose metabolism in patients with cataracts]

Vaca-Pacheco G, Medina C, García-Cruz D, Sánchez-Corona J, Chávez-Anaya E, Jaimes C, Hernández-Córdova A.

Arch Invest Med (Mex). 1990 Apr-Jun;21(2):127-32. Spanish.

PMID: 2103700 [PubMed - indexed for MEDLINE]

15:

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Calderon FR, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R.

J Inherit Metab Dis. 2007 Oct;30(5):818. Epub 2007 Sep 17.

PMID: 17876724 [PubMed - indexed for MEDLINE]

16:

Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

Lin HC, Reichardt JK.

Hum Genet. 1995 Mar;95(3):353-5.

PMID: 7868133 [PubMed - indexed for MEDLINE]

17:

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS.

J Inherit Metab Dis. 1995;18(5):567-76.

PMID: 8598637 [PubMed - indexed for MEDLINE]

18:

The molecular basis of transferase galactosaemia in South African negroids.

Manga N, Jenkins T, Jackson H, Whittaker DA, Lane AB.

J Inherit Metab Dis. 1999 Feb;22(1):37-42.

PMID: 10070616 [PubMed - indexed for MEDLINE]

19:

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

Suzuki M, West C, Beutler E.

Hum Genet. 2001 Aug;109(2):210-5.

PMID: 11511927 [PubMed - indexed for MEDLINE]

20:

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E, Croke DT.

Eur J Hum Genet. 1999 Jul;7(5):549-54.

PMID: 10439960 [PubMed - indexed for MEDLINE]

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