Published in Lab Invest on November 01, 1968
Liver transplantation for type IV glycogen storage disease. N Engl J Med (1991) 2.31
Lafora-like bodies in a cat. Case report suggestive of glycogen metabolism disturbances. Acta Neuropathol (1979) 1.04
Basophilic (mucoid) degeneration of myocardium: a disorder of glycogen metabolism. Am J Pathol (1970) 1.02
Myocardial diseases of animals. Am J Pathol (1986) 0.93
Correlation between ultrastructure and histochemistry of lafora bodies. Acta Neuropathol (1971) 0.92
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol (1994) 0.89
Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr (1993) 0.89
Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inherit Metab Dis (1988) 0.86
Light and electron microscopy of skeletal muscle in type IV glycogenosis. Acta Neuropathol (1971) 0.84
Neuronal glycogen synthesis contributes to physiological aging. Aging Cell (2014) 0.83
Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis (1990) 2.68
Cultivation in vitro of cells derived from a human osteosarcoma. Cancer (1971) 2.06
Considerations of the pathogenesis of neonatal hepatitis, biliary atresia and choledochal cyst--the concept of infantile obstructive cholangiopathy. Prog Pediatr Surg (1974) 1.91
Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr (1988) 1.79
The human liver after radiation injury. A form of veno-occlusive disease. Am J Pathol (1966) 1.77
Congenital malformations and genetic disorders of the respiratory tract (larynx, trachea, bronchi, and lungs). Am Rev Respir Dis (1979) 1.76
The Effect of Autolysis in Sterile Tissues on Subsequent Bacterial Decomposition. J Bacteriol (1930) 1.70
Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations. J Neuropathol Exp Neurol (1968) 1.67
Incorporation of C14 into Various Carbohydrates of Tobacco Leaves after Different Periods of Photosynthesis in C14O2. Science (1954) 1.62
Lupus nephritis: prognostic factors in children. Pediatrics (1992) 1.51
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol (1986) 1.48
Are infantile periarteritis nodosa with coronary artery involvement and fatal mucocutaneous lymph node syndrome the same? Comparison of 20 patients from North America with patients from Hawaii and Japan. Pediatrics (1977) 1.48
Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med (1981) 1.47
Incidence of short trachea in patients with myelomeningocele. Pediatr Neurol (1990) 1.39
Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. Ann Genet (1973) 1.38
Bronchial anatomy in syndromes with abnormal visceral situs, abnormal spleen and congenital heart disease. Am J Cardiol (1971) 1.32
Serological Types of Clostridium perfringens. J Bacteriol (1940) 1.27
Idiopathic hypoglycemia: a study of twenty-six children. J Pediatr (1969) 1.26
Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) (1971) 1.23
Diagnosis of biliary atresia: relative accuracy of percutaneous liver biopsy, open liver biopsy, and operative cholangiography. J Pediatr (1967) 1.22
Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies. J Pediatr (1980) 1.21
Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr (1971) 1.20
Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe. Hum Genet (1985) 1.20
Teratomas in infancy and childhood: experience with 81 cases. Surgery (1974) 1.20
Copper in childhood liver disease. A histologic, histochemical, and chemical survey. Arch Pathol (1972) 1.17
Abnormal Auerbach plexus in the esophagus and stomach of patients with esophageal atresia and tracheoesophageal fistula. J Pediatr Surg (1986) 1.16
Hemolytic-uremic syndrome. Clinical and pathological considerations. N Engl J Med (1966) 1.15
Deficit of uridine diphosphate galactose in galactosaemia. J Inherit Metab Dis (1989) 1.14
Significance of Distribution of Fluorescein in Sarcoma 180. Science (1948) 1.13
The 9p- syndrome. Ann Genet (1976) 1.12
Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet (1994) 1.12
The formation of inositol 1,2-cyclic 4,5-trisphosphate and inositol 1,2-cyclic 4-bisphosphate on stimulation of mouse pancreatic minilobules with carbamylcholine. J Biol Chem (1987) 1.10
Thrombosis, nephrosis, and corticosteroid therapy. J Pediatr (1968) 1.10
Chemotactic Response to Staphylococcus Strains of Varying Pathogenicity. J Bacteriol (1940) 1.08
The reconstituted (Na,K)-ATPase is electrogenic. J Biol Chem (1980) 1.08
Reconsideration of the anatomy of sling left pulmonary artery: the association of one form with bridging bronchus and imperforate anus. Anatomic and diagnostic aspects. J Pediatr Surg (1988) 1.08
Verbal dyspraxia in treated galactosemia. Pediatrics (1991) 1.08
Urinary galactitol in galactosemic patients. Biochem Med (1973) 1.07
Distribution of lesions in myenteric plexus and gastrointestinal mucosa in lipidoses and other neurologic disorders of children. Am J Clin Pathol (1968) 1.06
Pathological observations in ataxia-telangiectasia. A report of five cases. J Neuropathol Exp Neurol (1968) 1.06
Galactosemia: evaluation with MR imaging. Radiology (1992) 1.06
Syndromal associations of common origin of the carotid arteries. Pediatr Pathol (1993) 1.05
Syndromes of congenital heart disease with tracheobronchial anomalies. Edward B. D. Neuhauser Lecture, 1974. Am J Roentgenol Radium Ther Nucl Med (1975) 1.05
The formation of inositol 1,2-cyclic phosphate on agonist stimulation of phosphoinositide breakdown in mouse pancreatic minilobules. Evidence for direct phosphodiesteratic cleavage of phosphatidylinositol. J Biol Chem (1985) 1.04
Wegener's granulomatosis causing laryngeal and tracheobronchial obstruction in an adolescent girl. Ann Otol Rhinol Laryngol Suppl (1979) 1.02
Cerebral arachnoid cysts in infants. J Pediatr (1966) 1.01
Pancreatic islets in older patients with cystic fibrosis with and without diabetes mellitus: morphometric and immunocytologic studies. Pediatr Pathol (1986) 1.01
Time course of the intrahepatic lesion of extrahepatic biliary atresia: a morphometric study. Pediatr Pathol (1985) 1.00
Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch Pathol (1969) 1.00
Studies on the characterization of the sodium-potassium transport adenosine triphosphatase. VI. Large scale partial purification and properties of a lubrol-solubilized bovine brain enzyme. J Biol Chem (1971) 1.00
Psychopathology in non-clinically referred sexually abused children. J Am Acad Child Adolesc Psychiatry (1998) 0.99
Brain function in problem children and controls: psychometric, neurological, and electroencephalographic comparisons. Am J Psychiatry (1970) 0.99
Congenital dyskeratosis. Zinsser-Engman-Cole syndrome with thymic dysplasia and aplastic anemia. Am J Dis Child (1972) 0.99
Increased submucosal nerve trunk caliber in aganglionosis: a "positive" and objective finding in suction biopsies and segmental resections in Hirschsprung's disease. Arch Pathol Lab Med (1998) 0.98
Evidence for glucose-responsive and -unresponsive pools of phospholipid in pancreatic islets. J Biol Chem (1985) 0.98
Rubella bone lesions. J Pediatr (1969) 0.98
Childbearing by a galactosemic woman. J Pediatr (1971) 0.98
Evidence for a role in stimulus--secretion coupling of prostaglandins derived from release of arachidonoyl residues as a result of phosphatidylinositol breakdown. Proc Natl Acad Sci U S A (1980) 0.98
Extended hemodialysis in children with chronic renal failure. J Pediatr (1968) 0.98
Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. Am J Dis Child (1985) 0.97
Molecular properties of purified (sodium + potassium)-activated adenosine triphosphatases and their subunits from the rectal gland of Squalus acanthias and the electric organ of Electrophorus electricus. J Biol Chem (1975) 0.97
Normal organ weights of infants and children: graphs of values by age, with confidence intervals. Pediatr Pathol (1984) 0.97
Secretogogue-stimulated phosphatidylinositol breakdown in the exocrine pancreas liberates arachidonic acid, stearic acid, and glycerol by sequential actions of phospholipase C and diglyceride lipase. J Biol Chem (1984) 0.97
A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. Ann Hum Genet (1973) 0.96
The urinary system in Down syndrome: a study of 124 autopsy cases. Pediatr Pathol (1992) 0.96
Medulloblastoma presenting as neck tumors in 2 infants. Ann Neurol (1980) 0.95
Studies on the characterization of the sodium-potassium transport adenosine triphosphatase. Purification and properties of the enzyme from the electric organ of Electrophorus electricus. Arch Biochem Biophys (1974) 0.95
Ovarian failure in galactosaemia. Lancet (1979) 0.93
Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly. Am J Med Genet Suppl (1987) 0.93
Branching patterns of right pulmonary artery in cardiovascular anomalies. Pediatr Pathol (1993) 0.92
Studies on the characterization of the sodium-potassium transport adenosinetriphosphatase. XI. Comparison of kinetic properties of the purified with the impure membrane-bound enzyme from Squalus acanthias. Arch Biochem Biophys (1973) 0.92
Congenital hyperparathyroidism secondary to maternal hypoparathyroidism. J Pediatr (1970) 0.92
Tyrosinosis. Am J Dis Child (1967) 0.92
Transformation of human peripheral lymphocytes by galactose oxidase. J Immunol (1976) 0.91
Sexual abuse characteristics associated with survivor psychopathology. Child Abuse Negl (2000) 0.91
Approximate doubling of numbers of neurons in postnatal human cerebral cortex and in 35 specific cytoarchitectural areas from birth to 72 months. Pediatr Dev Pathol (1999) 0.91
Solitary plasmacytoma of the larynx and upper trachea associated with systemic lupus erythematosus. Ann Otol Rhinol Laryngol Suppl (1979) 0.91
Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family. Am J Med (1970) 0.91
Serial section-reconstruction of anomalous tracheobronchial branching patterns from CT scan images: bridging bronchus associated with sling left pulmonary artery. Pediatr Radiol (1990) 0.90
Triosephosphate isomerase deficiency. A case report with neuropathological findings. Am J Dis Child (1982) 0.90
Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria. J Inherit Metab Dis (1983) 0.90
Retinal changes in glycogen storage disease type I. Am J Dis Child (1968) 0.90
An improved procedure for the assay of hemolysate galactose-1-phosphate uridyl transferase activity by the use of 14C-labeled galactose-1-phosphate. Clin Chim Acta (1967) 0.89
Studies on the characterization of the sodium-potassium transport adenosinetriphosphatase. V. Partial purification of the lubrol-solubilized beef brain enzyme. Arch Biochem Biophys (1969) 0.89
Methylmalonic and propionic acidemias: lipid profiles of normal and affected human skin fibroblasts incubated with [1-14C]propionate. Biochem Med Metab Biol (1986) 0.89
Gonadal function in patients with galactosaemia. J Inherit Metab Dis (1986) 0.88
Infantile hepatic hemangiomas. Clinical features, radiologic investigations, and treatment of 20 patients. Cancer (1989) 0.88
Short trachea, a hazard in tracheal intubation of neonates and infants: syndromal associations. Anesthesiology (1989) 0.88
Changes in glomerular basement membrane antigen(s) with age. J Pediatr (1978) 0.88
Comparison of mental development in individuals with mosaic and trisomy 21 Down's syndrome. Pediatrics (1976) 0.88
A histologic evaluation of mixed connective tissue disease in childhood. Am J Med (1980) 0.88
Inhibition of human immunodeficiency virus infection by the lectin jacalin and by a derived peptide showing a sequence similarity with gp120. Eur J Immunol (1993) 0.87
Tracheostenosis and bronchial abnormalities associated with pulmonary artery sling. Ann Otol Rhinol Laryngol (1976) 0.87
Pulmonary lesions in childhood onset systemic lupus erythematosus: analysis of 26 cases, and summary of literature. Pediatr Pathol (1987) 0.86
Evidence for a postnatal doubling of neuron number in the developing human cerebral cortex between 15 months and 6 years. J Theor Biol (1998) 0.86
Pathogenetic mechanisms in hepatic cirrhosis of thalassemia major: light and electron microscopic studies. Pathol Annu (1977) 0.86