S Malvagia

Author PubWeight™ 8.01^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.	Am J Med Genet	2002	1.17
2	Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.	J Mass Spectrom	2006	0.95
3	Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.	Clin Genet	2011	0.93
4	Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.	J Inherit Metab Dis	2009	0.90
5	Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.	J Pharm Biomed Anal	2009	0.90
6	Propranolol concentrations after oral administration in term and preterm neonates.	J Matern Fetal Neonatal Med	2013	0.88
7	Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.	J Inherit Metab Dis	2008	0.81
8	Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.	Clin Genet	2006	0.80
9	Children who develop type 1 diabetes early in life show low levels of carnitine and amino acids at birth: does this finding shed light on the etiopathogenesis of the disease?	Nutr Diabetes	2013	0.79