Published in J Pediatr on August 01, 1981
Genetic heterogeneity in osteogenesis imperfecta. J Med Genet (1979) 12.51
Non-smooth mutants of Salmonella typhimurium: differentiation by phage sensitivity and genetic mapping. J Gen Microbiol (1972) 8.09
Socioeconomic determinants of health. Health inequalities: relative or absolute material standards? BMJ (1997) 6.24
Class mortality differentials, income distribution and trends in poverty 1921-1981. J Soc Policy (1989) 4.48
The epidemiological transition: from material scarcity to social disadvantage? Daedalus (1994) 4.27
Psychosocial and material pathways in the relation between income and health: a response to Lynch et al. BMJ (2001) 4.16
Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol (1996) 3.89
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet (1994) 3.73
Crime: social disorganization and relative deprivation. Soc Sci Med (1999) 3.09
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics (1972) 3.01
The incidence and presentation of cystic fibrosis in Victoria 1955-1978. Aust Paediatr J (1980) 2.78
Retracted Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases. Am J Hum Genet (1983) 2.45
Design of an efficient position sensitive gamma ray detector for nuclear medicine. Phys Med Biol (1986) 2.20
Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child (1977) 2.04
Menkes' kinky-hair syndrome. Lancet (1972) 1.99
Inequality, residential segregation by income, and mortality in US cities. J Epidemiol Community Health (2002) 1.98
Menkes' kinky hair disease: further definition of the defect in copper transport. Science (1973) 1.95
Genetics and cultural properties of mutants of Salmonella typhimurium lacking glucosyl or galactosyl lipopolysaccharide transferases. Nature (1968) 1.73
Purification and properties of beta-lactamase from Bacteroides fragilis. Antimicrob Agents Chemother (1978) 1.71
Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. Am J Med Genet (1996) 1.67
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet (1991) 1.66
Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism. J Pediatr (1975) 1.66
Genetic aspects of biosynthesis and structure of Salmonella somatic polysaccharide. Ann N Y Acad Sci (1966) 1.64
Divided we fall. BMJ (1994) 1.63
Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem J (1986) 1.62
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. Biochem J (1979) 1.61
Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care (1996) 1.60
Cytomegalovirus in human milk. N Engl J Med (1972) 1.60
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet (1998) 1.58
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. J Biol Chem (1987) 1.54
Family conflict and slow growth. Arch Dis Child (1997) 1.52
Heat illness in infants and young children: a study of 47 cases. 1962. Wilderness Environ Med (2004) 1.49
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J (1980) 1.49
"Variations" in health. BMJ (1995) 1.49
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet (1992) 1.47
Familial occurrence of congenital laryngeal clefts. Arch Dis Child (1973) 1.46
Glasgow, Edinburgh, and the health divide. BMJ (1992) 1.45
Malignant hyperphenylalaninaemia--current status (June 1977). J Inherit Metab Dis (1978) 1.45
Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J (1979) 1.42
A study of the inheritance of duplication of the kidneys and ureters. J Urol (1966) 1.38
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child (1977) 1.37
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. J Med Genet (1983) 1.37
Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr (1976) 1.37
Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice. Biochem J (1979) 1.36
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet (1979) 1.34
Medical complications of achondroplasia: a multicentre patient review. J Med Genet (1998) 1.34
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem Genet (1980) 1.33
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet (1998) 1.31
Severe neonatal citrullinaemia. Arch Dis Child (1974) 1.31
Prognosis of babies with neonatal hepatitis. Arch Dis Child (1977) 1.30
Management of newborn babies in whom serious metabolic illness is anticipated. Arch Dis Child (1974) 1.28
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics (1982) 1.27
Pregnancy, birth, and disability: women's health care experiences. Health Care Women Int (2000) 1.26
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser (1979) 1.25
Increased nerve-growth-factor beta-chain cross-reacting material in familial dysautonomia. N Engl J Med (1976) 1.23
Paternal age effect in fibrodysplasia ossificans progressiva. J Med Genet (1979) 1.23
Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch Dis Child (1976) 1.22
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria. Lancet (1975) 1.21
Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet (1981) 1.21
Incidence of neural tube defects in Victoria, Australia. Lancet (1983) 1.20
The mucopolysaccharidoses. Aust Paediatr J (1987) 1.17
Structure-activity studies leading to ethambutol, a new type of antituberculous compound. Ann N Y Acad Sci (1966) 1.16
Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. Biochem J (1979) 1.15
Photopheresis for the prevention of rejection in cardiac transplantation. Photopheresis Transplantation Study Group. N Engl J Med (1998) 1.14
The future direction of the adult heart allocation system in the United States. Am J Transplant (2015) 1.13
Chloramphenicol acetyltransferase of Bacteroides fragilis. Antimicrob Agents Chemother (1978) 1.13
Fibrodysplasia ossificans progressiva. A survey of forty-two cases. J Bone Joint Surg Am (1979) 1.11
The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation. Aust Paediatr J (1980) 1.11
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole. J Inherit Metab Dis (1995) 1.10
A pedigree study of perinatally lethal renal disease. J Med Genet (1985) 1.10
Transmission of fragile (X) (q27) site from a male. Lancet (1981) 1.10
The Opitz trigonocephaly syndrome. A case report. Am J Dis Child (1975) 1.09
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr (1988) 1.09
Income inequality and population health. Soc Sci Med (1998) 1.09
The psychosocial context of pregnancy smoking and quitting in the Millennium Cohort Study. J Epidemiol Community Health (2009) 1.09
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome. Hum Genet (1990) 1.09
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. N Engl J Med (1976) 1.08
Malonyl coenzyme A decarboxylase deficiency. J Inherit Metab Dis (1984) 1.08
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet (1985) 1.08
Interactions between acetylcholinesterase and tetra-N-alkylammonium ions. Biochem Pharmacol (1983) 1.07
Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. J Pediatr (1971) 1.06
Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome. J Med Genet (1995) 1.06
Isolation and characterization of Clostridium perfringens mutants altered in both hemagglutinin and sialidase production. J Bacteriol (1975) 1.06
Isolation and characterization of dihydropteridine reductase from human liver. Biochem J (1981) 1.05
Medium-chain triglyceride diet: its use in treatment of liver disease. Br Med J (1966) 1.05
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. J Med Genet (1986) 1.05
Long term prognosis for babies with neonatal liver disease. Arch Dis Child (1985) 1.04
Retraction: No evidence for more than one locus in cystic fibrosis . Am J Hum Genet (1984) 1.03
Leucine dissimilation to isovaleric and isocaproic acids by cell suspensions of amino acid fermenting anaerobes: the Stickland reaction revisited. Can J Microbiol (1982) 1.03
A mild form of Menkes steely hair syndrome. J Pediatr (1981) 1.03
Screening for aminoaciduria: a critical evaluation of four techniques and a survey of a mentally retarded population. Aust Paediatr J (1972) 1.02
Relationship between hemagglutinin and sialidase from Clostridium perfringens CN3870: chromatographic characterization of the biologically active proteins. J Bacteriol (1976) 1.02
Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia. Clin Chim Acta (1979) 1.02
Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem (1995) 1.02
Observations indicating the nature of the mutation in phenylketonuria. J Inherit Metab Dis (1980) 1.01
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen. J Med Genet (1990) 1.01