Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

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Published in Clin Genet on February 11, 2010

Authors

D Hofer1, K Paul, K Fantur, M Beck, A Roubergue, A Vellodi, B J Poorthuis, H Michelakakis, B Plecko, E Paschke

Author Affiliations

1: Department of Paediatrics, Medical University of Graz, Austria.

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An evaluation of an electric pulp tester as a measure of analgesia in human vital teeth. J Endod (1987) 1.79

Insect immunity. I. Characteristics of an inducible cell-free antibacterial reaction in hemolymph of Samia cynthia pupae. Infect Immun (1974) 1.78

Injections of botulinum toxin A into the salivary glands improve sialorrhoea in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2000) 1.77

Multidisciplinary management of Hunter syndrome. Pediatrics (2009) 1.76

Effect of systemic penicillin on pain in untreated irreversible pulpitis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2000) 1.74

Biosynthesis of proteodermatan sulfate in cultured human fibroblasts. J Biol Chem (1984) 1.71

Microinjection and growth of bacteria in the cytosol of mammalian host cells. Proc Natl Acad Sci U S A (2001) 1.71

Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet (2005) 1.67

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Treatment of bilateral superior oblique tendon sheath syndrome complicating rheumatoid arthritis. Br J Ophthalmol (1980) 1.62

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Horse chestnut seed extract. Lancet (1990) 1.37

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Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child (2000) 1.32

Anesthetic efficacy of the intraosseous injection after an inferior alveolar nerve block. J Endod (1996) 1.32

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Anesthetic efficacy of the intraosseous injection in maxillary and mandibular teeth. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (1996) 1.15

Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr (1995) 1.14

Lipoprotein Lp(a). A risk factor for myocardial infarction. Arteriosclerosis (1988) 1.14

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr (2007) 1.14

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An evaluation of 4% prilocaine and 3% mepivacaine compared with 2% lidocaine (1:100,000 epinephrine) for inferior alveolar nerve block. J Endod (1993) 1.13

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet (2000) 1.13

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr (1996) 1.13

Entry point soft tissue damage in antegrade femoral nailing: a cadaver study. J Orthop Trauma (2001) 1.12

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess (2012) 1.12

Oligogalacturonide defense signals in plants: large fragments interact with the plasma membrane in vitro. Proc Natl Acad Sci U S A (1995) 1.11

Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br (1997) 1.11

The use of ultrasound for guiding needle placement for inferior alveolar nerve blocks. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (1999) 1.11

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. J Inherit Metab Dis (1993) 1.11