Published in J Inherit Metab Dis on June 18, 2011
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Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis (2015) 0.96
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Identification of an androgen-dependent enhancer within the prostate stem cell antigen gene. Mol Endocrinol (2002) 0.92
Movement disorders in adult patients with classical galactosemia. Mov Disord (2013) 0.91
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Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet (2011) 0.89
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency. Circ Cardiovasc Genet (2010) 0.88
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The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. J Proteome Res (2013) 0.87
Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool. J Inherit Metab Dis (2011) 0.86
Deterioration of the auditory brainstem response in children with type 3 Gaucher disease. Neurology (2004) 0.86
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. J Inherit Metab Dis (2012) 0.86
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr (2004) 0.85
Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy. Pediatr Radiol (2008) 0.85
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Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. J Inherit Metab Dis (2011) 0.84
Rapid neonatal weight gain in rats results in a renal ubiquinone (CoQ) deficiency associated with premature death. Mech Ageing Dev (2007) 0.83
Effect of denervation on the content of cardiac troponin-T and cardiac troponin-I in rat skeletal muscle. Clin Biochem (2007) 0.82
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Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion. Eur J Pediatr (2005) 0.81
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Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry. Mol Genet Metab (2009) 0.80
Measurement of cardiac troponin I in striated muscle using three experimental methods. Ann Clin Biochem (2003) 0.80
Glutamate induces release of glutathione from cultured rat astrocytes--a possible neuroprotective mechanism? J Neurochem (2008) 0.78
Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging. J Inherit Metab Dis (2011) 0.78
Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death. Forensic Sci Med Pathol (2012) 0.77
Carpal tunnel syndrome in lysosomal storage disorders: simple decompression or external neurolysis? J Pediatr Orthop B (2007) 0.77
Things that go bump ... bump ... bump: an analysis of injuries from falling down stairs in children based at Sheffield Children's Hospital. Emerg Med J (2010) 0.77
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia. Pediatr Res (2002) 0.76
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders. Mol Genet Metab (2010) 0.75
Hypothermia and the assessment of sick children. BMJ (2013) 0.75
Increased nitric oxide production and protection from malaria. Lancet (2003) 0.75
Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD Rep (2011) 0.75
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Anal Chem (2017) 0.75
Working with a House of Commons Select Committee. Biologist (London) (2002) 0.75
Routine magnetic resonance imaging of the spine in children with Gaucher disease: does it help therapeutic management? Pediatr Radiol (2003) 0.75
Pulmonary hemorrhage in type 3 Gaucher disease: a case report. J Inherit Metab Dis (2010) 0.75
MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines. Exp Neurol (2008) 0.75
Primary care services located with EDs: a review of effectiveness. Emerg Med J (2016) 0.75