Published in Can J Neurol Sci on August 01, 2009
The catastrophic epilepsies. Can J Neurol Sci (2009) 0.75
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab (2008) 2.04
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr (2004) 1.94
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood (2004) 1.65
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab (2011) 1.61
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis (2012) 1.44
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. Mol Genet Metab (2009) 1.15
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? Dev Med Child Neurol (2011) 1.14
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med (2010) 1.11
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat (2006) 1.09
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis (2010) 1.06
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain (2014) 1.03
eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet (2003) 1.02
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol (2009) 1.01
Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum Mutat (2003) 0.99
Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol (2007) 0.97
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study. Am J Kidney Dis (2010) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom (2005) 0.90
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat (2009) 0.87
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation. Pediatr Infect Dis J (2013) 0.79
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol (2011) 0.79
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. Pediatr Hematol Oncol (2014) 0.77
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet (2015) 0.75
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep (2014) 0.75
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. Mol Genet Metab (2009) 0.75
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy. Eur J Pediatr (2014) 0.75
Peter-Emil-Becker-Price 2012. Neuropediatrics (2013) 0.75
Malignant stroke in a female adolescent (case presentation). Acta Paediatr (2009) 0.75
Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly. Fetal Diagn Ther (2017) 0.75