Published in Am J Hum Genet on July 01, 1970
The glycogen storage diseases. J Clin Pathol Suppl (R Coll Pathol) (1974) 0.76
Glycogen storage disease, type 8. Arch Dis Child (1972) 0.76
Mechanisms that control knox gene expression in the Arabidopsis shoot. Development (2000) 3.62
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med (2001) 2.94
Total colectomy and mucosal proctectomy with preservation of continence in ulcerative colitis. Ann Surg (1977) 2.15
Mitochondrial ultrastructure in Reye's syndrome (encephalopathy and fatty degeneration of the viscera). N Engl J Med (1971) 1.89
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation (1999) 1.75
Precautionary note on the use of the intestinal-biopsy capsule in infants and emaciated children. N Engl J Med (1966) 1.69
Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik (1966) 1.64
Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J Cell Biol (1967) 1.41
Homeobox genes in the functioning of plant meristems. Philos Trans R Soc Lond B Biol Sci (1995) 1.40
Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr (1999) 1.30
Reye's syndrome: epidemiologic and viral studies, 1963-1974. Am J Epidemiol (1975) 1.28
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol (2001) 1.22
Elevated serum 1,25 dihydroxyvitamin D concentrations in rickets of very low-birth-weight infants. J Pediatr (1981) 1.22
Loss of cyclic 3'5'-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle. Biochem Biophys Res Commun (1970) 1.22
Brain ultrastructure in Reye's syndrome. J Neuropathol Exp Neurol (1975) 1.20
Imbalance of liver phosphorylase and accumulation of hepatic glycogen in a girl with progressive disease of the brain. J Pediatr (1965) 1.20
Association of Reye's syndrome with viral infection. Lancet (1974) 1.17
The hepatic lesion in Reye's syndrome. Gastroenterology (1975) 1.16
Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science (1966) 1.14
Management of chylothorax in children by thoracentesis and medium-chain triglyceride feedings. J Pediatr Surg (1974) 1.14
Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects. Am J Med (1968) 1.11
Prognosis of neonatal seizures. Am J Dis Child (1969) 1.08
Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. Blood (1972) 1.08
Ankle joint synoviography in rheumatoid arthritis. Ann Rheum Dis (1977) 1.07
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. Gastroenterology (1982) 1.06
Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J Clin Invest (1969) 1.05
Sporadic hypoglycemia: abnormal epinephrine response to the ketogenic diet or to insulin. J Pediatr (1971) 1.02
Congenital creatine transporter deficiency. Neuropediatrics (2002) 1.02
Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis. Gastroenterology (1974) 1.01
Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome. N Engl J Med (1976) 1.01
Increased serum hexosaminidase in a woman pregnant with fetus affected by mucolipidosis II (I-cell disease) N Engl J Med (1984) 1.01
Alpha 1-antitrypsin phenotype: transient cathodal shift in serum of infant girl with urinary cytomegalovirus and fatty liver. Pediatr Res (1982) 1.00
Neuropsychologic consequences of Reye syndrome. J Pediatr (1979) 1.00
Deficient activity of hepatic acid lipase in cholesterol ester storage disease. Science (1972) 1.00
Glycogen storage disease, types I to X: criteria for morphologic diagnosis. Hum Pathol (1974) 0.99
Brain ultrastructure in Reye's disease. II. Acute injury and recovery processes in three children. J Neuropathol Exp Neurol (1979) 0.99
Small intestinal mucosa in cholesterol ester storage disease. A light and electron microscope study. Gastroenterology (1969) 0.98
Prenatal diagnosis of type-II glycogenosis. Lancet (1970) 0.98
Fatal viral encephalitis in children with X-linked hypogammaglobulinemia. Am J Dis Child (1973) 0.96
Reye's syndrome: current concepts. Hepatology (1987) 0.95
Idiopathic cardiomyopathy. Mitochondrial and cytoplasmic alterations in heart and liver. Lab Invest (1970) 0.95
Arylsulfatase A in the urine and metachromatic leukodystrophy. J Pediatr (1967) 0.94
Reye syndrome: treatment by exchange transfusion with special reference to the 1974 epidemic in Cincinnati, Ohio. J Pediatr (1975) 0.94
Isolation of influenza virus from liver and muscle biopsy specimens from a surviving case of Reye's syndrome. Lancet (1976) 0.93
Cholesterol ester storage disease and mesenteric lipodystrophy. Am J Clin Pathol (1984) 0.92
Glycogen storage diseases. Birth Defects Orig Artic Ser (1976) 0.92
Profound carnitine palmitoyltransferase II deficiency. J Pediatr (1994) 0.91
Effects of parenteral L-carnitine supplementation on fat metabolism and nutrition in premature neonates. J Pediatr (1995) 0.90
Pre- and postnatal pathology, enzyme treatment, and unresolved issues in five lysosomal disorders. Pharmacol Rev (1978) 0.90
Chronic lactic acidosis of infancy. J Pediatr (1970) 0.90
Type VI glycogenosis: biochemical demonstration of liver phosphorylase deficiency. Biochem Biophys Res Commun (1970) 0.89
Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. N Engl J Med (1984) 0.88
Serum salicylate concentrations in Reye's disease. A study of 130 biopsy-proven cases. Lancet (1982) 0.88
Deficient activity of acid lipase in cholesterol-ester storage disease. J Lab Clin Med (1971) 0.88
Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome. Am J Dis Child (1969) 0.87
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. J Pediatr (1973) 0.87
A comparison of liver ultrastructure in salicylate intoxication and Reye's syndrome. Hepatology (1984) 0.86
Chlorpropamide poisoning. Pediatrics (1968) 0.85
Pi Ecincinnati: a new alpha 1-antitrypsin allele in three Negro families. Hum Genet (1980) 0.85
Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens. J Lab Clin Med (1974) 0.84
Refractory infantile diarrhea due to primary bile acid malabsorption. J Pediatr (1979) 0.84
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. Pediatr Radiol (1986) 0.84
Encephalopathy and fatty liver (Reye's syndrome). Prog Liver Dis (1972) 0.84
Letter: Reye's syndrome. Lancet (1974) 0.83
Metachromatic leukodystrophy. Treatment with arylsulfatase-A. Arch Neurol (1969) 0.83
Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance. J Neurol Neurosurg Psychiatry (1980) 0.83
Chronic lymphocytic thyroiditis and juvenile myxedema in uniovular twins. J Pediatr (1968) 0.82
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. Am J Med Genet (1996) 0.82
Editorial: The diagnosis of Reye syndrome. J Pediatr (1975) 0.82
Bone marrow transplantation in type IIa glycogen storage disease. Birth Defects Orig Artic Ser (1986) 0.82
Abnormal lipid accumulation within the small intestinal mucosa of children with juvenile-onset diabetes mellitus. Am J Dis Child (1977) 0.81
Hemodynamic and myocyte mitochondrial ultrastructural abnormalities in arrhythmogenic right ventricular dysplasia. Am Heart J (1993) 0.81
Enzyme therapy and prenatal diagnosis in glycogenosis type II. Am J Dis Child (1974) 0.81
Glycogenosis type II. Arch Pathol (1967) 0.81
Familial hyperchylomicronemia. Enzymatic and physiologic studies. Am J Med (1971) 0.81
Fat nutrition and diet in childhood. Am J Cardiol (1973) 0.81