Published in Pediatrics on September 01, 1994
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Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. Arch Dis Child (2005) 1.61
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet (2000) 0.85
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics (2005) 0.78
Vitamin B6 is essential for serine de novo biosynthesis. J Inherit Metab Dis (2017) 0.75
Is migraine food allergy? A double-blind controlled trial of oligoantigenic diet treatment. Lancet (1983) 3.79
Controlled trial of oligoantigenic treatment in the hyperkinetic syndrome. Lancet (1985) 3.09
Mitochondrial inheritance in a mitochondrially mediated disease. N Engl J Med (1983) 2.08
Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) Clin Genet (1993) 1.72
Stenting from the vertebral artery to the posterior inferior cerebellar artery. AJNR Am J Neuroradiol (2011) 1.64
Intravenous calcitriol regresses myocardial hypertrophy in hemodialysis patients with secondary hyperparathyroidism. Am J Kidney Dis (1999) 1.63
Identification of a feline immunodeficiency virus gene which is essential for cell-free virus infectivity. J Virol (1992) 1.59
Single bolus of intravenous ketamine for anesthetic induction decreases oculocardiac reflex in children undergoing strabismus surgery. Acta Anaesthesiol Scand (2007) 1.58
Clinical and angiographic follow-up of stent-only therapy for acute intracranial vertebrobasilar dissecting aneurysms. AJNR Am J Neuroradiol (2009) 1.47
Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. Arch Dis Child (1981) 1.34
Risk factors for the development of NIDDM in Yonchon County, Korea. Diabetes Care (1997) 1.33
Identification of folic acid compounds in rat liver. Biochem Biophys Res Commun (1972) 1.21
Outcomes and prognostic factors of intracranial unruptured vertebrobasilar artery dissection. Neurology (2011) 1.21
Recanalization of completely thrombosed giant aneurysm: case report. Surg Neurol (1999) 1.17
Molecular and phylogenetic analyses of the haemagglutinin (H) proteins of field isolates of canine distemper virus from naturally infected dogs. J Gen Virol (1997) 1.17
Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry (1982) 1.16
Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins. Eur J Pediatr (1986) 1.16
Normative volumetric data of the developing hippocampus in children based on magnetic resonance imaging. Epilepsia (1999) 1.14
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis (1992) 1.13
Angiotensin II type 1 receptor as a novel therapeutic target in rheumatoid arthritis: in vivo analyses in rodent models of arthritis and ex vivo analyses in human inflammatory synovitis. Arthritis Rheum (2007) 1.13
Skeletal muscle apoptosis after burns is associated with activation of proapoptotic signals. Am J Physiol Endocrinol Metab (2000) 1.12
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol (2000) 1.09
Measuring the burden of premature death due to smoking in Korea from 1990 to 1999. Public Health (2003) 1.07
Effects of sodium valproate in 100 children with special reference to weight. Br Med J (Clin Res Ed) (1981) 1.05
Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol (1993) 1.04
Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur J Pediatr (1997) 1.03
Feline CD4 molecules expressed on feline non-lymphoid cell lines are not enough for productive infection of highly lymphotropic feline immunodeficiency virus isolates. Arch Virol (1993) 1.02
Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. Clin Chim Acta (1985) 1.01
Enhancement of central nervous system pathology in early simian immunodeficiency virus infection by dopaminergic drugs. Acta Neuropathol (2001) 1.00
Subcellular localization of gamma-glutamyl carboxypeptidase and of folates. Biochim Biophys Acta (1976) 0.99
Increased brain levels of 4-hydroxy-2-nonenal glutathione conjugates in severe Alzheimer's disease. Neurochem Int (2006) 0.99
Papillary muscle rupture complicating inferior myocardial infarction in a young woman with systemic lupus erythematosus and antiphospholipid syndrome. Nephrol Dial Transplant (1998) 0.98
Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta (1987) 0.97
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet (1997) 0.96
Serological analysis of canine distemper virus using an immunocapture ELISA. J Vet Med Sci (1996) 0.96
Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in neuroblastoma and biliary atresia. Clin Chim Acta (1983) 0.96
Management and clinical outcome of acute basilar artery dissection. AJNR Am J Neuroradiol (2008) 0.94
Studies of folate compounds in nature. Folate compounds in rat kidney and red blood cells. Arch Biochem Biophys (1974) 0.94
High glucose-induced intercellular adhesion molecule-1 (ICAM-1) expression through an osmotic effect in rat mesangial cells is PKC-NF-kappa B-dependent. Diabetologia (2000) 0.94
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inherit Metab Dis (1996) 0.94
Localization of the viral antigen of feline immunodeficiency virus in the lymph nodes of cats at the early stage of infection. Arch Virol (1993) 0.93
Lactobacillus casei response to pteroylpolyglutamates. Anal Biochem (1972) 0.93
Emergent self-expanding stent placement for acute intracranial or extracranial internal carotid artery dissection with significant hemodynamic insufficiency. AJNR Am J Neuroradiol (2010) 0.92
A dietary management of severe childhood migraine. Hum Nutr Appl Nutr (1985) 0.92
Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features. Neuropediatrics (1986) 0.92
Plasma polyol levels in patients with cataract. J Inherit Metab Dis (1990) 0.92
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr (1988) 0.91
Clinical outcome and ischemic complication after treatment of anterior choroidal artery aneurysm: comparison between surgical clipping and endovascular coiling. AJNR Am J Neuroradiol (2007) 0.91
Epidemiological observations on recent outbreaks of canine distemper in Tokyo area. J Vet Med Sci (1996) 0.91
Thyroxine treatment induces upregulation of renin-angiotensin-aldosterone system due to decreasing effective plasma volume in patients with primary myxoedema. Nephrol Dial Transplant (2001) 0.90
A mild juvenile variant of type IV glycogenosis. Brain Dev (1992) 0.90
Cataract and metabolic disease. J Inherit Metab Dis (1990) 0.90
Progressive neuronal degeneration of childhood with liver disease. A pathological study. Brain (1986) 0.89
Serum biomarker panels for the diagnosis of gastric adenocarcinoma. Br J Cancer (2012) 0.89
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. J Inherit Metab Dis (1995) 0.89
Prevalence estimation of dementia in a rural area of Korea. J Am Geriatr Soc (1998) 0.89
Subjective time estimation in Parkinson's disease. J Neural Transm Suppl (1995) 0.88
Rat brain folate identification. J Neurochem (1976) 0.88
The nucleotide and predicted amino acid sequence of the fusion protein of recent isolates of canine distemper virus in Japan. J Vet Med Sci (1998) 0.88
A post mortem study on neurochemical markers of dopaminergic, GABA-ergic and glutamatergic neurons in basal ganglia-thalamocortical circuits in Parkinson syndrome. Brain Res (1996) 0.88
Chronic alcohol consumption and cerebral indices of oxidative stress: is there a link? Alcohol Clin Exp Res (2001) 0.88
Blood transferrin and ferritin in Alzheimer's disease. Life Sci (1997) 0.88
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Hum Mol Genet (1996) 0.88
Lasting effects of chronic fluoxetine treatment on the late developing rat brain: age-dependent changes in the serotonergic neurotransmitter system assessed by pharmacological MRI. Neuroimage (2011) 0.88
Which CT perfusion parameter best reflects cerebrovascular reserve?: correlation of acetazolamide-challenged CT perfusion with single-photon emission CT in Moyamoya patients. AJNR Am J Neuroradiol (2008) 0.88
Free radicals in Alzheimer's disease. J Neural Transm Suppl (1998) 0.87
Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. J Inherit Metab Dis (1990) 0.87
Studies of folic acid compounds in nature. 3. Folic acid compounds in cabbage. Can J Biochem (1973) 0.87
Progressive neuronal degeneration of childhood (PNDC) with liver disease. Clin Pediatr (Phila) (1987) 0.87
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. Am J Med Genet (1995) 0.86
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis (2006) 0.86
Mitochondrial cytopathy or Leigh's syndrome? Mitochondrial abnormalities in Spongiform encephalopathies. Neuropediatrics (1982) 0.86
Acute effect of qigong training on stress hormonal levels in man. Am J Chin Med (1996) 0.85
Inhibition of lens-aldose reductase activity by brazilin and haematoxylin. Planta Med (1985) 0.85
Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. J Inherit Metab Dis (2002) 0.85
Feline immunodeficiency virus gene expression: analysis of the RNA splicing pattern and the monocistronic rev mRNA. J Gen Virol (1993) 0.85
Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol (1983) 0.85
Separation of folic acid compounds by gel chromatography on Sephadex G-15 and G-25. J Biol Chem (1972) 0.85
Production of infectious particles from defective human immunodeficiency virus type 1 (HIV-1)-producing cell clones by superinfection with infectious HIV-1. Arch Virol (1991) 0.85
Dopaminergic effects on cognitive performance in patients with Parkinson's disease. J Neural Transm Suppl (1995) 0.85
Therapeutic brain concentration of the NMDA receptor antagonist amantadine. Neuropharmacology (1995) 0.85
Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. J Mol Med (Berl) (1998) 0.84
Immunohistochemical analysis of the lymphoid organs of dogs naturally infected with canine distemper virus. J Comp Pathol (1995) 0.84
A double catheter technique for elongated middle cerebral artery bifurcation aneurysm. A case report. Interv Neuroradiol (2006) 0.84
Intraosseous temperature changes during the use of piezosurgical inserts in vitro. Int J Oral Maxillofac Surg (2012) 0.84
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology (2005) 0.84
Five cases of food allergy to vegetable worm (Cordyceps sinensis) showing cross-reactivity with silkworm pupae. Allergy (2010) 0.83
The metabolism of methotrexate in Lactobacillus casei and rat liver and the influence of methotrexate on metabolism of folic acid. J Biol Chem (1974) 0.83
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J Pediatr (1998) 0.83
Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany. J Inherit Metab Dis (1994) 0.83
Management of poor-grade patients with ruptured intracranial aneurysm. Keio J Med (1997) 0.82
Cortical subacute necrotizing encephalomyelopathy. A study of two patients with mitochondrial dysfunction. Neuropediatrics (1984) 0.82
Progressive neuronal degeneration of childhood with liver disease. Computed tomographic features. Neuroradiology (1987) 0.82
Links between L-glutamate transporters, Na+/K+-ATPase and cytoskeleton in astrocytes: evidence following inhibition with rottlerin. Neuroscience (2013) 0.82
The relationships between vitamin B12 and folic acid and the effect of methionine on folate metabolism. Mol Cell Biochem (1975) 0.82
Increased concentrations of manganese superoxide dismutase in serum of alcohol-dependent patients. Alcohol Alcohol (1997) 0.81
Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients. Eur J Pediatr (1996) 0.81
Magnesium for hyperventilation in Rett's syndrome. Lancet (1992) 0.81
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet (1998) 0.81