Journal of Inherited Metabolic Disease,volume 35,issue 4  (07-2013)

Period of time： 2013年4期

Publisher： Springer Publishing Company

Founded in： 1978

Total resources： 41

ISSN： 0141-8955

Subject： R72 Pediatrics

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Journal of Inherited Metabolic Disease,volume 35,issue 4

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SSIEM 2011

By Blau Nenad in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 569-569

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Progress in understanding 2-hydroxyglutaric acidurias

By Kranendijk Martijn in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 571-587

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Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

By Senniappan Senthil in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 589-601

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

By Loeber J. in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 603-611

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance

By Burgard Peter in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 613-625

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Newborn screening for lysosomal storage diseases: an ethical and policy analysis

By Ross Lainie in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 627-634

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Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

By Cornel Martina in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 635-640

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Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders

By Alexander Ian in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 641-645

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Creatine metabolism in urea cycle defects

By Boenzi Sara in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 647-653

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Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

By Braissant Olivier in (2012)

Journal of Inherited Metabolic Disease,volume 35,issue 4 , Vol. 35, Iss. 4, 2012-07 , pp. 655-664

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