Literature DB >> 10952647

A controversial expert witness.

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Abstract

Mesh：

Year:  2000        PMID： 10952647      PMCID： PMC1718481          DOI： 10.1136/adc.83.3.250

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  13 in total

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

Authors:  D D Waggoner; N R Buist; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  A mouse model of galactose-1-phosphate uridyl transferase deficiency.

Authors:  N D Leslie; K L Yager; P D McNamara; S Segal
Journal:  Biochem Mol Med       Date:  1996-10

3.  Galactosaemia: relationship of IQ to biochemical control and genotype.

Authors:  M A Cleary; L E Heptinstall; J E Wraith; J H Walter
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Authors:  M M Honeyman; A Green; J B Holton; J V Leonard
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

Review 5.  Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease.

Authors:  R Smith
Journal:  Arch Dis Child       Date:  1995-02       Impact factor: 3.791

6.  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

7.  Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Authors:  J K Reichardt; S Packman; S L Woo
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

8.  Long-term outcome in 134 patients with galactosaemia.

Authors:  S Schweitzer; Y Shin; C Jakobs; J Brodehl
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183

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

Authors:  M Sommer; B S Gathof; T Podskarbi; R Giugliani; B Kleinlein; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

10.  Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Authors:  L J Elsas; S Langley; E Steele; J Evinger; J L Fridovich-Keil; A Brown; R Singh; P Fernhoff; L N Hjelm; P P Dembure
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
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