• Publications
  • Influence
Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group ofExpand
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
TLDR
The etiology of Leigh syndrome is investigated in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features, and no strong correlation between the clinical features and basic defects is found. Expand
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
TLDR
DNA linkage among subjects from 128 sibships within 18 PKD1 families was used as the basis for an assessment of ultrasound sensitivity, and the presence of at least two renal cysts in individuals at risk and younger than 30 years may be regarded as sufficient to establish a diagnosis. Expand
Copper deficiency in humans.
  • D. Danks
  • Medicine
  • Ciba Foundation symposium
  • 1980
TLDR
The features seen in Menkes' syndrome suggest that human beings may be rather susceptible to the vascular and neurological effects of copper deficiency; these effects may be encountered as a consequence of prolonged mild copper deficiency. Expand
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
TLDR
It is shown that mutations in the human flavin-containing monooxygenase isoform 3 gene ( FMO3) impair N -oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype. Expand
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.
TLDR
Tissue damage due to reactions between methacrylyl-CoA and important sulfhydryl-containing enzymes and cofactors may account for the teratogenic effects seen in this patient. Expand
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.
TLDR
Seven new cases of Menkes9s kinky hair syndrome are described from five families and low levels of serum copper and ceruloplasmin were found in all patients studied and a defect in the intestinal absorption of copper has been demonstrated, suggesting copper deficiency provides an adequate explanation of all the features of the disease. Expand
A genetic study of fibrocystic disease of the pancreas
TLDR
The fact that two of the authors have been engaged in the research study, and clinical and social care, of most patients with fibrocystic disease of the pancreas seen at the hospital since 1949, has greatly facilitated this study by allowing precise definition of individual index cases. Expand
Studies of the aetiology of neonatal hepatitis and biliary atresia.
TLDR
Hypotheses for the aetiology of neonatal hepatitis and of extrahepatic biliary atresia are presented, both of which are considered syndromes with multiple causes. Expand
...
1
2
3
4
5
...