Literature DB >> 660351

Newborn screening for galactosemia and other galactose metabolic defects.

H L Levy, G Hammersen.   

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Year:  1978        PMID： 660351     DOI： 10.1016/s0022-3476(78)80351-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  14 in total

Review 1.  New developments in neonatal screening.

Authors:  K Bartlett; S J Eaton; M Pourfarzam
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1997-09       Impact factor: 5.747

Review 2.  Newborn screening for galactosaemia.

Authors:  Rohollah Lak; Bahareh Yazdizadeh; Majid Davari; Mojtaba Nouhi; Roya Kelishadi
Journal:  Cochrane Database Syst Rev       Date:  2017-12-23

3.  Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.

Authors:  C Wolfrom; N Raynaud; N Kadhom; J Poggi; T Soni; M Gautier
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 4.  A research framework for evaluating the promotion of mental health and prevention of mental illness.

Authors:  L Eisenberg
Journal:  Public Health Rep       Date:  1981 Jan-Feb       Impact factor: 2.792

5.  A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

Authors:  Rena Papachristoforou; Petros P Petrou; Hilary Sawyer; Maggie Williams; Anthi Drousiotou
Journal:  JIMD Rep       Date:  2013-09-04

6.  Crystal structures of HINT demonstrate that histidine triad proteins are GalT-related nucleotide-binding proteins.

Authors:  C Brenner; P Garrison; J Gilmour; D Peisach; D Ringe; G A Petsko; J M Lowenstein
Journal:  Nat Struct Biol       Date:  1997-03

7.  Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors:  J K Reichardt; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

8.  Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.

Authors:  A Alano; S Almashanu; J M Chinsky; P Costeas; M G Blitzer; E A Wulfsberg; T M Cowan
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  Galactosemic enzyme levels in presenile cataracts.

Authors:  G Maraini; E Leardi; G Nuzzi
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

10.  Molecular analysis of 11 galactosemia patients.

Authors:  J K Reichardt
Journal:  Nucleic Acids Res       Date:  1991-12       Impact factor: 16.971
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