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J Inherit Metab Dis 2009 Oct 31.
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PDH E(1)beta deficiency with novel mutations in two patients with Leigh syndrome. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Nov 9.
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Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Oct 31.
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Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Oct 31.
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Miglustat therapy in juvenile Sandhoff disease. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Nov 4.
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Substrate deprivation therapy in juvenile Sandhoff disease. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Nov 4.
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Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Nov 4.
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Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Oct 27.
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RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Oct 24.
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Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. [JOURNAL ARTICLE]
J Inherit Metab Dis 2009 Oct 13.
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