Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging-Reference-Cited by-同舟云学术

Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging

Published:2004-03 Issue:1 Volume:27 Page:11-18
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Nishimura Y.¹,Tajima G.¹,Bahagia A. Dwi¹,Sakamoto A.¹,Ono H.¹,Sakura N.¹,Naito K.²,Hamakawa M.³,Yoshii C.³,Kubota M.³,Kobayashi K.⁴,Saheki T.⁴

Affiliation:

1. ; Departments of Pediatrics; Hiroshima University Graduate School of Biomedical Sciences; Japan

2. Department of Pediatrics; Hiroshima Graduate School of Biomedical Sciences; 1-2-3 Kasumi, Minami-Ku Hiroshima 734-8551 Japan

3. Hiroshima City Clinical Research Center; Japan

4. ; Molecular Metabolism and Biochemical Genetics, Department of Developmental Medicine; Kagoshima University Graduate School of Medical and Dental Sciences; Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000016621.29854.d6/fullpdf

Reference19 articles.

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2. Uridine diphosphate galactose 4-epimerase deficiency;Gitzelmann;Paediatr Acta,1973

3. Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii;Gitzelmann;Eur J Pediatr,1992

4. Galactose-1-phosphate uridyltransferase;Hansen;Methods Enzymol,1966

5. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein;Kobayashi;Nature Genetics,1999

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