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Period of time: 2013年2期
Publisher: Springer Publishing Company
Founded in: 1978
Total resources: 41
ISSN: 0141-8955
Subject: R72 Pediatrics
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Journal of Inherited Metabolic Disease,volume 28,issue 2
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Cerebral ketone body metabolism
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Increased NO production in lysinuric protein intolerance
By Mannucci L.,Emma F.,Markert M.,Bachmann C.,Boulat O.,Carrozzo R.,Rizzoni G.,Dionisi-Vici C. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Hyperinsulinism in tyrosinaemia type I
By Baumann U.,Preece M.,Green A.,Kelly D.,McKiernan P. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
By Santer R.,Gokçay G.,Demirkol M.,Gal A.,Lukacs Z. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
By Lee P.,Harrison E.,Jones M.,Jones S.,Leonard J.,Chalmers R. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
By Franco L.,Krishnamurthy V.,Bali D.,Weinstein D.,Arn P.,Clary B.,Boney A.,Sullivan J.,Frush D.,Chen Y.-T.,Kishnani P. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Galactosaemia: Early treatment with an elemental formula
By Zlatunich C.,Packman S. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
By Verhoeven N.,Wallot M.,Huck J.,Dirsch O.,Ballauf A.,Neudorf U.,Salomons G.,Knaap M.,Voit T.,Jakobs C. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome
By Babovic-Vuksanovic D.,Jacobson R.,Lindor N.,Weiler C. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.![](/images/ico/ico5.png)
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
By Tomatsu S.,Okamura K.,Maeda H.,Taketani T.,Castrillon S.,Gutierrez M.,Nishioka T.,Fachel A.,Orii K.,Grubb J.,Cooper A.,Thornley M.,Wraith E.,Barrera L.,Laybauer L.,Giugliani R.,Schwartz I.,Frenking G.,Beck M.,Kircher S.,Paschke E.,Yamaguchi S.,Ullrich K.,Haskins M.,Isogai K.,Suzuki Y.,Orii T.,Kondo N.,Creer M.,Okuyama T.,Tanaka A.,Noguchi A. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 2 , Vol. 28, Iss. 2, 2005-04 , pp.