Published in Mol Genet Metab on September 28, 2012
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Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation (2007) 2.15
Long-term results of autologous stem cell transplantation for primary refractory or relapsed Hodgkin's lymphoma. Biol Blood Marrow Transplant (2006) 2.14
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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
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Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). Blood (2010) 1.15
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Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes. Eur J Pediatr (2011) 1.13
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Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2005) 1.11
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Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. J Inherit Metab Dis (2012) 1.09
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Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One (2012) 1.04
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. J Inherit Metab Dis (2013) 1.04
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics (2003) 1.02
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. Biochim Biophys Acta (2010) 1.01
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet (2003) 1.01
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr (2003) 1.00
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA. J Hepatol (2010) 1.00
Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facility. Public Health Nurs (2008) 0.99
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J Rare Dis (2011) 0.97
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. J Inherit Metab Dis (2010) 0.97
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Orphanet J Rare Dis (2013) 0.96
Identification of novel mutations in classical galactosemia. Hum Mutat (2005) 0.95
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. Am J Med Genet A (2014) 0.95
Statin use during pregnancy: a systematic review and meta-analysis. Expert Rev Cardiovasc Ther (2012) 0.94
Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr (2004) 0.93
Cleft lip and palate: association with other congenital malformations. J Clin Pediatr Dent (2009) 0.93
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res (2013) 0.93
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans. FASEB J (2009) 0.93
Glutathione S-transferase A1 genetic variants reduce busulfan clearance in children undergoing hematopoietic cell transplantation. J Clin Pharmacol (2008) 0.92
Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab (2010) 0.91
In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. J Bone Miner Res (2004) 0.90
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines. FASEB J (2013) 0.90
Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity. PLoS One (2012) 0.90
Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr (2005) 0.90
The Minnesota Molecular and Cellular Therapeutics Facility: a state-of-the-art biotherapeutics engineering laboratory. Transfus Med Rev (2005) 0.90
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