Published in Sudan J Paediatr on January 01, 2011
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med (2007) 3.36
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics (2003) 3.24
Pompe's disease. Lancet (2008) 3.11
A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med (2010) 3.05
Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2000) 2.70
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
Classical galactosaemia revisited. J Inherit Metab Dis (2006) 2.38
Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet (2006) 2.33
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr (2002) 2.21
Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr (1999) 2.17
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab (2007) 2.03
Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. J Pediatr (1993) 1.94
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet (2007) 1.92
Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet (2003) 1.69
Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis (2006) 1.63
Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr (1990) 1.51
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis (2006) 1.51
NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis (2008) 1.48
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue. Diabetes (2007) 1.45
Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr (2002) 1.35
The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis (2001) 1.32
Hyperammonemia in the ICU. Chest (2007) 1.29
Cardiomyopathy and carnitine deficiency. Mol Genet Metab (2008) 1.22
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics (2009) 1.19
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics (2010) 1.17
Problems in the management of urea cycle disorders. Mol Genet Metab (2004) 1.14
N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate. J Inherit Metab Dis (1998) 1.05
History of pediatric liver transplantation. Where are we coming from? Where do we stand? Pediatr Transplant (2002) 1.04
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol (1999) 1.04
Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab (2002) 1.04
Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab (2008) 1.03
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening. Mol Genet Metab (2005) 1.00
Long-term correction of urea cycle disorders. J Pediatr (2001) 0.99
Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem (2004) 0.99
The impact of screening for propionic and methylmalonic acidaemia. Eur J Pediatr (2003) 0.99
Liver transplantation in maple syrup urine disease. Eur J Pediatr (1999) 0.97
Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat (2006) 0.97
Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J Inherit Metab Dis (2006) 0.96
Nontransplant treatment of tyrosinemia. Clin Liver Dis (2000) 0.95
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur J Pediatr (2003) 0.95
Application of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol (1999) 0.94
Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol (2002) 0.93
Treatment of the acute crisis in maple syrup urine disease. Arch Pediatr Adolesc Med (1998) 0.89
Inborn errors of metabolism: part 1: overview. Pediatr Rev (2009) 0.85
Tandem spectrometry in newborn screening. Curr Opin Pediatr (1998) 0.85
Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy (HI). Pediatr Endocrinol Rev (2004) 0.83
Classic galactosemia: dietary dilemmas. J Inherit Metab Dis (2010) 0.81
Inborn errors of metabolism: part 2: specific disorders. Pediatr Rev (2009) 0.79
Acid-base disorders. Pediatr Rev (2011) 0.78