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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]Related articlesFree article

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]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articlesFree article

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]Related articles

Negative screening tests in classical galactosaemia caused by S135L homozygosity.

Crushell E, Chukwu J, Mayne P, Blatny J, Treacy EP.

J Inherit Metab Dis. 2009 Jun;32(3):412-5. Epub 2009 May 8.PMID: 19418241 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articles

[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]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articles

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]Related articles