Published in Mol Genet Metab on May 24, 2011
Nodding syndrome. Emerg Infect Dis (2013) 1.45
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology (2015) 1.40
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis (2014) 0.93
Partial Pyridoxine Responsiveness in PNPO Deficiency. JIMD Rep (2012) 0.89
A review of traditional and novel treatments for seizures in autism spectrum disorder: findings from a systematic review and expert panel. Front Public Health (2013) 0.88
Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging (2012) 0.86
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy. JIMD Rep (2015) 0.85
Genetics of Epilepsy in Clinical Practice. Epilepsy Curr (2015) 0.85
Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol (2014) 0.84
Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1. Biochemistry (2015) 0.83
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. PLoS One (2014) 0.81
Clinical review of genetic epileptic encephalopathies. Eur J Med Genet (2012) 0.81
Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review. JIMD Rep (2015) 0.80
Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child (2013) 0.80
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PLoS One (2015) 0.79
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. Ann Neurol (2014) 0.78
Vitamin-responsive epileptic encephalopathies in children. Epilepsy Res Treat (2013) 0.77
Vitamin B6 in plasma and cerebrospinal fluid of children. PLoS One (2015) 0.77
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. JIMD Rep (2013) 0.77
Evidence for Pipecolate Oxidase in Mediating Protection Against Hydrogen Peroxide Stress. J Cell Biochem (2016) 0.75
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. JIMD Rep (2013) 0.75
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation. Mol Genet Metab Rep (2016) 0.75
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep (2014) 0.75
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nat Protoc (2017) 0.75
PLPP/CIN Regulates Seizure Activity by the Differential Modulation of Calsenilin Binding to GluN1 and Kv4.2 in Mice. Front Mol Neurosci (2017) 0.75
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches. Int J Mol Sci (2017) 0.75
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. Neurol Sci (2015) 0.75
Plasma Pyridoxal 5´-Phosphate Level in Children with Intractable and Controlled Epilepsy. Iran J Child Neurol (2017) 0.75
Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients. Metab Brain Dis (2017) 0.75
Pyridoxine dependent epilepsies: new therapeutical point of view. Ital J Pediatr (2017) 0.75
Vitamin B6 is essential for serine de novo biosynthesis. J Inherit Metab Dis (2017) 0.75
Clinical and genetic characteristics of pyridoxine-dependent epilepsy: Case series report of three Chinese patients with phenotypic variability. Exp Ther Med (2017) 0.75
Canadian Network for Mood and Anxiety Treatments (CANMAT) guidelines for the management of patients with bipolar disorder: consensus and controversies. Bipolar Disord (2005) 4.94
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet (2004) 4.08
Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress. J Biol (2007) 2.70
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol (2010) 2.52
Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology (2014) 2.38
Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem (2004) 2.35
The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21
Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease. Clin Chem (2003) 2.15
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
Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation. Biochem J (2011) 1.96
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr (2004) 1.94
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis (2012) 1.78
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Unusual variants of Alexander's disease. Ann Neurol (2005) 1.76
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab (2002) 1.72
Skeletal muscle metabolism in cystic fibrosis and primary ciliary dyskinesia. Pediatr Res (2011) 1.70
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood (2004) 1.65
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet (2012) 1.64
Long-term surveillance of growth hormone therapy. J Clin Endocrinol Metab (2011) 1.64
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab (2002) 1.63
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat (2009) 1.55
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
A catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth. Proc Natl Acad Sci U S A (2008) 1.54
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. Ann Neurol (2011) 1.53
Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol (2013) 1.50
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain (2012) 1.50
90Y-edotreotide for metastatic carcinoid refractory to octreotide. J Clin Oncol (2010) 1.49
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. Dev Med Child Neurol (2007) 1.46
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
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis (2011) 1.44
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int (2004) 1.43
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat (2003) 1.42
Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells. Cell Metab (2011) 1.40
Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. Clin Chem (2003) 1.40
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. Am J Med Genet A (2010) 1.40
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Can J Neurol Sci (2012) 1.40
Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2014) 1.40
HPV detection rate in discordant Pap tests between cytotechnologists and pathologists. Diagn Cytopathol (2009) 1.39
Genomics in clinical practice: lessons from the front lines. Sci Transl Med (2013) 1.38
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36
The outer segment serves as a default destination for the trafficking of membrane proteins in photoreceptors. J Cell Biol (2008) 1.32
The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response. Antioxid Redox Signal (2011) 1.31
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry (2003) 1.29
Human rheumatoid arthritis tissue production of IL-17A drives matrix and cartilage degradation: synergy with tumour necrosis factor-alpha, Oncostatin M and response to biologic therapies. Arthritis Res Ther (2009) 1.28
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet (2002) 1.27
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat (2007) 1.26
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab (2004) 1.26
Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol (2004) 1.25
Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord (2010) 1.24
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience. J Child Neurol (2013) 1.24
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain (2013) 1.22
Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol (2003) 1.22
Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis (2011) 1.21
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20
Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. BMC Dev Biol (2008) 1.19
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet (2004) 1.18
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab (2008) 1.17
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet (2008) 1.16
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev (2011) 1.16
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects. Clin Chem Lab Med (2007) 1.16
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. Mol Genet Metab (2009) 1.15
Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response. Nat Biotechnol (2009) 1.14
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
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet (2011) 1.14
Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). J Pharmacol Exp Ther (2002) 1.13
A novel gamma-hydroxybutyrate dehydrogenase: identification and expression of an Arabidopsis cDNA and potential role under oxygen deficiency. J Biol Chem (2003) 1.13
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr (2008) 1.12
Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci (2005) 1.12
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
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exercise. Ann Neurol (2010) 1.10
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis (2010) 1.10
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC. J Mol Med (Berl) (2005) 1.10
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis (2013) 1.09
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab (2002) 1.09
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat (2006) 1.09
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr (2006) 1.09
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem (2003) 1.09
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. Am J Med Genet A (2004) 1.09
A direct test of potential roles for beta3 and beta5 integrins in growth and metastasis of murine mammary carcinomas. Cancer Res (2005) 1.08
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal (2011) 1.08