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Period of time: 2013年1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 1
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Abstracts - SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-07 , pp.![](/images/ico/ico5.png)
By Butler A.,Henderson S.,Gordon R.,Dagan A.,Gatt S.,Schuchman E. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
By Brinkman J.,Wijburg F.,Hollak C.,Groener J.,Verhoek M.,Scheij S.,Aten J.,Boot R.,Aerts J. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide
By Whitfield P.,Calvin J.,Hogg S.,O’Driscoll E.,Halsall D.,Burling K.,Maguire G.,Wright N.,Cox T.,Meikle P.,Deegan P. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
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By Mills K.,Morris P.,Lee P.,Vellodi A.,Waldek S.,Young E.,Winchester B. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency
By Iida M.,Yasuhara T.,Mochizuki H.,Takakura H.,Yanagisawa T.,Kubo H. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum
By Latini A.,Scussiato K.,Leipnitz G.,Dutra-Filho C.,Wajner M. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome
By Rossi M.,Federico G.,Corso G.,Parenti G.,Battagliese A.,Frascogna A.,Casa R.,Russo A.,Strisciuglio P.,Saggese G.,Andria G. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.![](/images/ico/ico5.png)
By Hargreaves I.,Sheena Y.,Land J.,Heales S. in (2005)
Journal of Inherited Metabolic Disease,volume 28,issue 1 , Vol. 28, Iss. 1, 2005-01 , pp.