Published in J Inherit Metab Dis on May 01, 1999
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Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol (1998) 1.25
Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids. Neuroradiology (2005) 1.25
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A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis (1996) 1.16
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13
Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis (1999) 1.11
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology (2004) 1.10
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Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet (2001) 1.09
Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem (1998) 1.09
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis (1997) 1.09
Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res (2000) 1.09
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Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Neurology (2004) 1.08
Autonomic cardiovascular regulation in patients with obstructive sleep apnoea: a study based on spectral analysis of heart rate variability. Clin Physiol (2000) 1.08
Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis (2002) 1.07
Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol (1999) 1.06
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Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol (1999) 1.03
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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta (2011) 1.03
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DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. J Med Genet (2004) 1.02
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Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Clin Chem (1999) 0.99
Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations. Mol Genet Metab (2008) 0.99
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The effect of enzyme therapy in a patient with Gaucher disease type III. J Inherit Metab Dis (1996) 0.98
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