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1.
Isolation and purification of an axenic diazotrophic drought-tolerant cyanobacterium, Nostoc commune, from natural cyanobacterial crusts and its utilization for field research on soils polluted with radioisotopes.
Biochim Biophys Acta
; 1817(8): 1499-505, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22417797
2.
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
J Hum Genet
; 56(4): 306-12, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21307867
3.
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
J Hum Genet
; 48(11): 571-4, 2003.
Artículo
en Inglés
| MEDLINE | ID: mdl-14566483
4.
Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
Jpn Heart J
; 45(4): 685-9, 2004 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-15353880
5.
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Pediatr Res
; 56(5): 714-9, 2004 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-15319459
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