PubRank

R R Howell

Author PubWeight™ 47.16‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet 1972 2.65
2 Duty to re-contact. Genet Med 2001 1.80
3 Suppression of metabolic accompaniments of phagocytosis by colchicine. Arthritis Rheum 1965 1.70
4 Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc Natl Acad Sci U S A 1976 1.60
5 Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol 1988 1.39
6 THE RENAL EXCRETION OF URIC ACID IN GOUT. J Clin Invest 1962 1.23
7 Infantile metachromatic leukodystrophy. N Engl J Med 1970 1.20
8 Turnover of ribosomal RNA in rat liver. Science 1965 1.19
9 Galactokinase deficiency: clinical and biochemical findings in a new kindred. J Pediatr 1972 1.19
10 Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 1984 1.05
11 Relationships between glycogen storage disease and tophaceous gout. Am J Med 1967 1.01
12 Hepatic adenomata with type 1 glycogen storage disease. JAMA 1976 0.99
13 Human hepatic uridine diphosphate galactose pyrophosphorylase. Its characterization and activity during development. J Biol Chem 1969 0.96
14 The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. Pediatrics 1976 0.96
15 Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia. J Pediatr 1981 0.96
16 Excessive production of uric acid in type I glycogen storage disease. J Pediatr 1968 0.96
17 Enzyme studies on diploid cell strains developed from patients with hereditary orotic aciduria. Johns Hopkins Med J 1967 0.96
18 Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study. Am J Clin Pathol 1976 0.93
19 The interrelationship of glycogen storage disease and gout. Arthritis Rheum 1965 0.93
20 Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB. Am J Med Genet 1977 0.93
21 Continuing lessons from glycogen storage diseases. N Engl J Med 1991 0.91
22 Insulin secretion in type I glycogen storage disease. Diabetes 1969 0.91
23 Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging 1987 0.87
24 Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy. Clin Chim Acta 1972 0.87
25 Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency. Am J Med 1979 0.86
26 A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects Orig Artic Ser 1976 0.85
27 Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J Pediatr 1971 0.85
28 Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria. Am J Obstet Gynecol 1971 0.85
29 GM1-gangliosidosis. Ocular and pathological manifestations. Arch Ophthalmol 1971 0.85
30 Copper metabolism in Menkes disease. Monogr Hum Genet 1978 0.85
31 The simultaneous occurrence of histidinemia and congenital hypoplastic anemia. J Pediatr 1969 0.85
32 Ocular findings in mannosidosis. Am J Ophthalmol 1976 0.84
33 CSF neurotransmitter studies. An infant with ascorbic acid-responsive tyrosinemia. Am J Dis Child 1980 0.84
34 Ectodermal manifestations in Menkes disease. Clin Genet 1985 0.83
35 Pili torti as marker for carriers of Menkes disease. Lancet 1978 0.82
36 Hyperuricemia in childhood. Fed Proc 1968 0.82
37 The Sabinas syndrome. Am J Hum Genet 1981 0.81
38 Computerized data analysis of amino acids in physiologic fluids. J Chromatogr 1976 0.80
39 Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis. Science 1971 0.78
40 Genetic evidence for the common identity of glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase. Biochim Biophys Acta 1977 0.78
41 The offspring of phenylketonuric women. Soc Biol 1971 0.77
42 Synthesis of a metallothionein-like protein in cultured human skin fibroblasts: relation to abnormal copper distribution in Menkes' disease. J Cell Physiol 1981 0.77
43 Development of gluconeogenic enzymes in fetal sheep liver and kidney. Dev Biol 1976 0.77
44 Enzymatic and biochemical characterization of the avian glycogen body. Comp Biochem Physiol B 1975 0.77
45 Ruptured aortic valve cusp: a complication of the Heimlich maneuver. Ann Emerg Med 1983 0.77
46 Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapy. Trans Assoc Am Physicians 1972 0.76
47 The regulation of enzyme synthesis by steroid hormones: the role of translation. J Cell Physiol 1965 0.76
48 Hypertension in a child with type IA glycogen storage disease. Am J Kidney Dis 1988 0.75
49 Juvenile gouty arthritis. Am J Dis Child 1985 0.75
50 Prescription-writing skills questioned. Fam Med 1994 0.75
51 Authors and conflict of interest. Am Fam Physician 1995 0.75
52 The diagnostic value of serum enzyme measurements. J Pediatr 1966 0.75
53 Penicillin-insensitive pneumococcus: a case report from South Carolina. J S C Med Assoc 1986 0.75
54 Volcanic Activity on lo at the Time of the Ulysses Encounter. Science 1992 0.75
55 Myophosphorylase deficiency (McArdle's disease): report of a family. Can J Neurol Sci 1976 0.75
56 Glycogen storage disease research and clinical problems: a reappraisal. J Pediatr Gastroenterol Nutr 1984 0.75
57 Infrared speckle observations of io: an eruption in the loki region. Science 1985 0.75
58 Gene expression in muscle. Summary and synthesis. Adv Exp Med Biol 1985 0.75
59 Generalized gangliosidosis. Birth Defects Orig Artic Ser 1971 0.75
60 Technique for obtaining visibility amplitudes from atmospherically disturbed interferograms. Appl Opt 1995 0.75
61 Rapid identification and quantitation of urinary metabolites of phenylalanine in phenylketonuria by gas chromatography. J Lab Clin Med 1971 0.75
62 Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 2001 0.75
63 Inborn errors of metabolism: some thoughts about their basic mechanisms. Pediatrics 1970 0.75
64 Editorial: Man, mice and glycogen storage. West J Med 1975 0.75
65 X-ray fluorescence spectrometry in the analysis of trace elements in human milk. J Lab Clin Med 1983 0.75
66 Phenylketonuria in the general population. N Engl J Med 1970 0.75
67 Prenatal diagnosis in the prevention of handicapping disorders. Pediatr Clin North Am 1973 0.75
68 Ultraviolet-absorbing compounds in urine of normal newborns and young children. Clin Chem 1970 0.75
69 The detection of inborn errors of metabolism. Del Med J 1969 0.75
70 Digoxin dosing: an alternate approach. J S C Med Assoc 1995 0.75
71 Populations at risk for drug-related admissions. Fam Med 1992 0.75
72 The effects of colchicine on the metabolic accompaniments of phagocytosis. Arthritis Rheum 1965 0.75
73 What's new in pediatrics: mental retardation, macroorchidism, and marker x chromosome. Tex Med 1981 0.75
74 Ocular findings in acid lipase deficiency. Monogr Hum Genet 1978 0.75
75 Corneal clouding in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Birth Defects Orig Artic Ser 1971 0.75
76 Prenatal diagnosis in the prevention of genetic disease. Tex Med 1974 0.75
77 Detection of human acid alpha-glucosidase in fibroblasts using monoclonal antibodies in a biotin-avidin amplified ELISA. Hybridoma 1985 0.75
78 Histidinemia in a Negro child. Am J Dis Child 1971 0.75
79 Hydrogen Sulfide on IO: Evidence from Telescopic and Laboratory Infrared Spectra. Science 1989 0.75