Published in Neurology on August 01, 1981
Normal cerebellar glutamate dehydrogenase protein in spinocerebellar degeneration. J Neurol Neurosurg Psychiatry (1989) 0.78
The international index of erectile function (IIEF): a multidimensional scale for assessment of erectile dysfunction. Urology (1997) 13.27
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A (1970) 3.05
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science (1968) 2.69
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Agenesis of the lung. Report of four patients with unusual anomalies. Chest (1985) 2.33
Alzheimer's disease and its Lewy body variant: a clinical analysis of postmortem verified cases. Am J Psychiatry (1996) 2.30
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta (1977) 2.25
Salt--a dangerous "antidote". J Pediatr (1971) 2.12
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res (2000) 2.01
Validity and reliability of the twenty-eight-joint count for the assessment of rheumatoid arthritis activity. Arthritis Rheum (1995) 1.93
Failure of parenteral metronidazole in the treatment of pseudomembranous colitis. J Infect Dis (1988) 1.79
Vasoactive intestinal polypeptide: abundant immunoreactivity in neural cell lines and normal nervous tissue. Science (1976) 1.76
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest (1979) 1.73
Resistance trends of Neisseria gonorrhoeae in the Republic of Korea. Antimicrob Agents Chemother (1984) 1.61
DNA-triplet repeats and neurologic disease. N Engl J Med (1996) 1.60
Specific domains of beta-amyloid from Alzheimer plaque elicit neuron killing in human microglia. J Neurosci (1996) 1.59
Competent patients with advanced states of permanent paralysis have the right to forgo life-sustaining therapy. Neurology (1993) 1.58
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet (1971) 1.57
Further observations on the effects of alloxan on the pancreatic islets. J Physiol (1944) 1.53
Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology (1967) 1.50
Category fluency in mild cognitive impairment: reduced effect of practice in test-retest conditions. Alzheimer Dis Assoc Disord (2004) 1.48
Dexamethasone and severe head injury. A prospective double-blind study. J Neurosurg (1979) 1.45
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1994) 1.43
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med (1978) 1.42
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom (1990) 1.41
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Carbon dioxide dynamics during apneic oxygenation: the effects of preceding hypocapnia. J Clin Anesth (1998) 1.41
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest (1981) 1.39
NTBC and alkaptonuria. Am J Hum Genet (1998) 1.38
Peripheral neuropathy and starvation after gastric partitioning for morbid obesity. Ann Intern Med (1982) 1.31
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem (1989) 1.28
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol (1999) 1.28
Correlation of double-minute chromosomes with unstable multidrug cross-resistance in uptake mutants of neuroblastoma cells. Proc Natl Acad Sci U S A (1981) 1.28
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology (1976) 1.27
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci (1975) 1.26
Markers for gene expression in cultured cells from the nervous system. J Biol Chem (1972) 1.26
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res (1989) 1.25
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr (1973) 1.25
An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gel. Biochem Genet (1969) 1.25
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr (1976) 1.24
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis (1981) 1.23
Transverse myelitis associated with heroin addiction. JAMA (1968) 1.22
Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr (1986) 1.21
Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology (1995) 1.21
Effects of practice on category fluency in Alzheimer's disease. Clin Neuropsychol (2001) 1.20
Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr (1971) 1.20
Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand (1978) 1.20
Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr (1969) 1.20
Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol (1999) 1.19
Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis (1993) 1.19
cTRAIN: a computer-aided training system developed in SuperCard for teaching skills using behavioral education principles. Behav Res Methods Instrum Comput (2001) 1.18
The HHQK domain of beta-amyloid provides a structural basis for the immunopathology of Alzheimer's disease. J Biol Chem (1998) 1.18
Apoptosis and neurologic disease. Am J Med (2000) 1.17
Risk factors of adolescent and young adult trauma victims. Am J Crit Care (1995) 1.17
Regulation of size and birefringence of the in vivo mitotic apparatus. J Supramol Struct (1974) 1.16
Glutaric aciduria Type II. J Pediatr (1980) 1.16
Thymidylate synthase gene amplification in fluorodeoxyuridine-resistant mouse cell lines. Mol Pharmacol (1985) 1.16
The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids (2004) 1.14
Abnormalities of fatty acid oxidation. N Engl J Med (1988) 1.13
Mononeuritis multiplex in lepromatous leprosy. Arch Neurol (1968) 1.12
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res (1982) 1.12
Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. J Pediatr (1968) 1.10
Regulation of the in vivo mitotic apparatus by glycols and metabolic inhibitors. Ann N Y Acad Sci (1975) 1.10
A rapid and specific assay for sugar methylation in ribonucleic acid. J Biol Chem (1967) 1.08
A new disorder of purine metabolism with behavioral manifestations. J Pediatr (1969) 1.07
Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis). A clinical, ultrastructural, and chemical study. Neurology (1971) 1.07
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. J Biol Chem (1972) 1.07
Nonketotic hyperglycinemia. J Pediatr (1969) 1.07
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Pteridines. VI. Preparation of some 6-aryl-7-aminopteridines. J Med Chem (1968) 1.06
Neutropenia of childhood. West J Med (1982) 1.05
Manifestations of the battered-child syndrome. J Bone Joint Surg Am (1974) 1.05
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr (1988) 1.05
Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol (1982) 1.05
Acute basal ganglia infarction in propionic acidemia. J Child Neurol (1995) 1.05
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. Fed Proc (1968) 1.05
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
The Lesch-Nyhan syndrome. Annu Rev Med (1973) 1.04
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme. Proc Natl Acad Sci U S A (1972) 1.04
Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts. Proc Natl Acad Sci U S A (1973) 1.04
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol (1989) 1.03
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res (1979) 1.03
Altered amyloid protein processing in platelets of patients with Alzheimer disease. Arch Neurol (1997) 1.03
Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev (2001) 1.03
Congenital cutis laxa and osteoporosis. Am J Dis Child (1983) 1.02
Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr (1970) 1.02
Bronchial atresia: a recognizable entity in the pediatric age group. J Pediatr Surg (1978) 1.02
Cleavage inhibition in marine eggs by puromycin and 6-dimethylaminopurine. Exp Cell Res (1973) 1.02
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn (1999) 1.02
Platelet APP isoform ratios correlate with declining cognition in AD. Neurology (2000) 1.01
Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol (1974) 1.01
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr (1988) 1.01