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Literature DB >> 1706789

Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Abstract

An international survey of the long term results of treating galactosaemia has shown poor results. These do not seem to be related to any of the relevant variables studied, for example delayed diagnosis or poor dietary compliance.

Mesh：

Substances：

Year: 1990 PMID： 1706789 DOI： 10.1007/bf01800204

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

12 in total

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Authors: W G Ng; Y K Xu; F R Kaufman; G N Donnell
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

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Journal: Lancet Date: 1982-12-18 Impact factor: 79.321

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Authors: F R Kaufman; Y K Xu; W G Ng; G N Donnell
Journal: J Pediatr Date: 1988-05 Impact factor: 4.406

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Authors: I B Sardharwalla; J E Wraith
Journal: Nutr Health Date: 1987

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Authors: J K Reichardt; P Berg
Journal: Mol Biol Med Date: 1988-04

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10. Verbal dyspraxia in treated galactosemia.

Authors: C D Nelson; D D Waggoner; G N Donnell; J M Tuerck; N R Buist
Journal: Pediatrics Date: 1991-08 Impact factor: 7.124

143 in total

1. Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

Authors: Y S Shin; J Zschocke; A M Das; T Podskarbi
Journal: J Inherit Metab Dis Date: 1999-05 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

3. A controversial expert witness.

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Journal: Arch Dis Child Date: 2000-09 Impact factor: 3.791

4. Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group.

Authors: J H Walter; J E Collins; J V Leonard
Journal: Arch Dis Child Date: 1999-01 Impact factor: 3.791

5. Association of fungal sepsis and galactosemia.

Authors: Sanjay Verma; Bhavneet Bharti; P Inusha
Journal: Indian J Pediatr Date: 2010-06-08 Impact factor: 1.967

6. Structure-activity analysis and cell-based optimization of human galactokinase inhibitors.

Authors: Si Odejinmi; Rg Rascon; M Tang; H Vankayalapati; K Lai
Journal: ACS Med Chem Lett Date: 2011-09-08 Impact factor: 4.345

7. Newborn screening.

Authors: James J Pitt
Journal: Clin Biochem Rev Date: 2010-05

8. The neuropsychological profile of galactosaemia.

Authors: Claire M Doyle; Shelley Channon; Danuta Orlowska; Philip J Lee
Journal: J Inherit Metab Dis Date: 2010-07-06 Impact factor: 4.982

9. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Authors: Gerard T Berry; Louis J Elsas
Journal: J Inherit Metab Dis Date: 2010-11-30 Impact factor: 4.982

10. Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.

Authors: Allison B Frederick; Alison M Zinsli; Grace Carlock; Karen Conneely; Judith L Fridovich-Keil
Journal: J Inherit Metab Dis Date: 2018-05-02 Impact factor: 4.982