| Rank | Title | Journal | Year | PubWeight™‹?› |
|---|---|---|---|---|
| 1 | NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. | J Inherit Metab Dis | 2008 | 1.48 |
| 2 | Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. | Rheumatology (Oxford) | 2007 | 1.01 |
| 3 | [Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]. | Arch Pediatr | 2009 | 0.91 |
| 4 | Seventeen novel mutations that cause profound biotinidase deficiency. | Mol Genet Metab | 2002 | 0.86 |
| 5 | Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. | Neuropediatrics | 2005 | 0.79 |
| 6 | [Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]. | Rev Med Interne | 2004 | 0.75 |