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Literature DB >> 9728327

Komrower Lecture. Galactosaemia today: the enigma and the challenge.

S Segal¹.

Abstract

Mesh：

Substances：

Year: 1998 PMID： 9728327 DOI： 10.1023/a:1005402618384

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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53 in total

1. Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases.

Authors: J B Gibson; R A Reynolds; M J Palmieri; B States; G T Berry; S Segal
Journal: Pediatr Res Date: 1994-11 Impact factor: 3.756

2. Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

Authors: P Cuatrecasas; S Segal
Journal: Science Date: 1966-07-29 Impact factor: 47.728

3. Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects.

Authors: S Segal; S Rogers; P G Holtzapple
Journal: J Clin Invest Date: 1971-03 Impact factor: 14.808

4. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.

Authors: G T Berry; M Palmieri; K C Gross; P B Acosta; J A Henstenburg; A Mazur; R Reynolds; S Segal
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

5. A common mutation associated with the Duarte galactosemia allele.

Authors: L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal: Am J Hum Genet Date: 1994-06 Impact factor: 11.025

6. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency.

Authors: G T Berry; I Nissim; A T Mazur; L J Elsas; R H Singh; P D Klein; J B Gibson; Z Lin; S Segal
Journal: Biochem Mol Med Date: 1995-12

7. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

Authors: F R Kaufman; J K Reichardt; W G Ng; Y K Xu; F R Manis; C McBride-Chang; J A Wolff
Journal: J Pediatr Date: 1994-08 Impact factor: 4.406

8. Biochemical and molecular studies of 132 patients with galactosemia.

Authors: W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal: Hum Genet Date: 1994-10 Impact factor: 4.132

9. A prevalent mutation for galactosemia among black Americans.

Authors: K Lai; S D Langley; R H Singh; P P Dembure; L N Hjelm; L J Elsas
Journal: J Pediatr Date: 1996-01 Impact factor: 4.406

10. Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 A resolution.

Authors: J E Wedekind; P A Frey; I Rayment
Journal: Biochemistry Date: 1995-09-05 Impact factor: 3.162

9 in total

1. Molecular characterization of Polish patients with classical galactosaemia.

Authors: C Zekanowski; B Radomyska; J Bal
Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982

2. Spontaneous pregnancy in a patient with classical galactosaemia.

Authors: S de Jongh; P Vreken; L IJst; R J Wanders; C Jakobs; H D Bakker
Journal: J Inherit Metab Dis Date: 1999-08 Impact factor: 4.982

Review 3. Classical galactosaemia revisited.

Authors: Annet M Bosch
Journal: J Inherit Metab Dis Date: 2006-07-11 Impact factor: 4.982

9. GALT protein database, a bioinformatics resource for the management and analysis of structural features of a galactosemia-related protein and its mutants.

Authors: Antonio d'Acierno; Angelo Facchiano; Anna Marabotti
Journal: Genomics Proteomics Bioinformatics Date: 2009-06 Impact factor: 7.691