David M. Danks

David M. Danks's AcademicInfluence.com Rankings

David M. Danks

Biology

#7054

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#9905

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Genetics

#667

World Rank

#753

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Biology

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David M. Danks's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetic heterogeneity in osteogenesis imperfecta. (1979) (1916)
Leigh syndrome: Clinical features and biochemical and DNA abnormalities (1996) (717)
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. (1988) (703)
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. (1972) (587)
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 (1994) (567)
Menkes' kinky-hair syndrome. (1972) (322)
Copper deficiency in humans. (1980) (256)
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. (1975) (223)
Studies of the aetiology of neonatal hepatitis and biliary atresia. (1977) (221)
Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport (1973) (213)
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. (1998) (199)
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease (1992) (179)
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. (1979) (157)
Cytomegalovirus in human milk. (1972) (156)
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. (1980) (153)
Genetic counselling. (1967) (148)
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. (1998) (136)
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. (1979) (134)
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. (1977) (131)
Chondrodysplasia punctata-23 cases of a mild and relatively common variety. (1976) (114)
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards (1991) (112)
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. (1982) (106)
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. (1986) (102)
VARIANT FORMS OF PHENYLKETONURIA (1976) (98)
Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. (1979) (98)
Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis. (1995) (92)
Letter: Patient with defect in leucine metabolism. (1976) (90)
The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. (1976) (79)
Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice. (1979) (78)
A mild form of Menkes steely hair syndrome. (1981) (77)
TETRAHYDROBIOPTERIN TREATMENT OF VARIANT FORM OF PHENYLKETONURIA (1975) (74)
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. (2000) (72)
Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency. (1977) (70)
A study of the inheritance of duplication of the kidneys and ureters. (1966) (70)
Jaundice associated with bacterial infection in the newborn. (1971) (66)
“Cerebral” lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis (2004) (64)
New estimates of down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population (1995) (62)
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase (1985) (61)
Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines. (1987) (60)
Further delineation of the C (trigonocephaly) syndrome. (1981) (59)
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. (1987) (59)
MONOSACCHARIDE MALABSORPTION IN YOUNG INFANTS (1966) (56)
A Genetic Study of Neonatal Obstructive Jaundice (1963) (55)
Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice. (1979) (52)
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. (1976) (47)
Heat Illness in Infants and Young Children (1962) (46)
Malignant Hyperphenylalaninemia—Clinical Features, Biochemical Findings, and Experience with Administration of Biopterins (1979) (46)
Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice. (1986) (45)
Uptake of copper by mouse hepatocytes (1988) (45)
The natural history of untreated phenylketonuria over 20 years (1991) (44)
LINKAGE ANALYSIS OF X-LINKED MENTAL RETARDATION WITH AND WITHOUT FRAGILE-X USING FACTOR IX GENE PROBE (1984) (44)
Prognosis of babies with neonatal hepatitis. (1977) (43)
Isolation and characterization of dihydropteridine reductase from human liver. (1981) (42)
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient (1997) (42)
Hairs from patients with maple syrup urine disease show a structural defect in the fiber cuticle. (1996) (41)
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole (1995) (41)
Malignant hyperphenylalaninaemia—Current status (June 1977) (1978) (41)
Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. (1971) (40)
The Opitz trigonocephaly syndrome. A case report. (1975) (40)
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants (1980) (40)
Stability of protein and mRNA in human postmortem liver--analysis by two-dimensional gel electrophoresis. (1987) (39)
Peroxisomal L-Pipecolic Acid Oxidation Is Deficient in Liver from Zellweger Syndrome Patients (1989) (39)
Malonyl coenzyme a decarboxylase deficiency (1984) (38)
Human copper deficiency: ultrastructural studies of the aorta and skin in a child with Menkes' syndrome. (1976) (38)
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease (1991) (37)
New metabolites in isovaleric acidemia. (1981) (36)
Wilson's disease in adults with cirrhosis but no neurological abnormalities. (1990) (36)
Profiles of urinary volatiles from metabolic disorders characterized by unusual odors. (1983) (36)
NEONATAL RESPIRATORY DISTRESS ASSOCIATED WITH A HIGH HAEMATOCRIT READING. (1964) (36)
Menkes' steely-hair (kinky-hair) disease. (1973) (36)
Letter: Anticonvulsants and congenital abnormalities. (1974) (36)
Medium-chain triglyceride diet: its use in treatment of liver disease. (1966) (35)
Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome? (1984) (35)
Copper metabolism in mottled mouse mutants. Defective placental transfer of 64Cu to foetal brindled (Mobr) mice. (1980) (35)
Menkes kinky-hair syndrome. An inherited defect in the intestinal absorption of copper with widespread effects. (1974) (34)
Neuropathology in glutaric acidaemia type 1 (2004) (33)
The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemia. (1979) (33)
Is Menkes' syndrome a heritable disorder of connective tissue? (1971) (32)
ANTICONVULSANTS AND CONGENITAL ABNORMALITIES (1974) (32)
A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. (1977) (31)
The mild form of Menkes disease: progress report on the original case. (1988) (31)
Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice. (1982) (30)
Familial occurrence of meconium ileus (1981) (30)
Steely Hair, Mottled Mice and Copper Metabolism (1975) (30)
Long term prognosis for babies with neonatal liver disease. (1985) (30)
Studies on the mechanism of zinc uptake by human fibroblasts (1988) (29)
Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. (1976) (29)
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. (1994) (29)
Effects of cellular copper content on copper uptake and metallothionein and ceruloplasmin mRNA levels in mouse hepatocytes. (1990) (28)
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia (1994) (28)
X-linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation (1992) (28)
Copper and liver disease (2005) (27)
Of mice and men, metals and mutations. (1986) (27)
Congenital absence of pyramids and its significance in genetic diseases (2004) (27)
A study of the role of metallothionein in the inherited copper toxicosis of dogs. (1986) (26)
Biochemical basis of prolidase deficiency. Polypeptide and RNA phenotypes and the relation to clinical phenotypes. (1990) (26)
PROLONGED NEONATAL OBSTRUCTIVE JAUNDICE. A SURVEY OF MODERN CONCEPTS. (1965) (26)
Hepatitis syndrome in infancy--an epidemiological survey with 10 year follow up. (1985) (25)
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. (1972) (25)
The incidence and presentation of cystic fibrosis in Victoria 1955–1978 (1980) (25)
Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase. (1978) (24)
Albumin has no role in the uptake of copper by human fibroblasts. (1987) (24)
Extrahepatic biliary atresia: the frequency of potentially operable cases. (1974) (24)
Double-labeling and high precision comparison of complex protein patterns on two-dimensional polyacrylamide gels. (1980) (24)
Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver (1974) (24)
Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia. (1976) (23)
Congenital hypothyroidism and neonatal jaundice. (1972) (22)
Letter: Variant forms of phenylketonuria. (1976) (22)
Metabolic Studies on Two Patients with Nonhepatic Tyrosinemia Using Deuterated Tyrosine Loads (1977) (22)
INCIDENCE OF NEURAL TUBE DEFECTS IN VICTORIA, AUSTRALIA (1983) (22)
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. (1979) (21)
Extrahepatic biliary atresia: comments on the frequency of potentially operable cases. (1966) (21)
Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia. (1979) (21)
Metabolic stroke in methylmalonic acidemia. (1989) (21)
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency. (1981) (20)
Familial occurrence of congenital laryngeal clefts (1973) (19)
HEPATITIS VIRUS IN NEONATAL LIVER DISEASE (1965) (19)
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). (1980) (19)
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria. (1979) (18)
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. (1988) (18)
Two new sulphur-containing amino acids in man. (1981) (18)
A NEW SYNDROME OF BROAD TERMINAL PHALANGES AND FACIAL ABNORMALITIES (1973) (18)
Trimethylaminuria: diet does not always control the fishy odor. (1976) (18)
Phenylalanine hydroxylation and tyrosine requirement of cultured cells. Evidence of phenylalanine hydroxylation in mastocytoma cells in culture. (1976) (18)
Effect of chelators on copper metabolism and copper pools in mouse hepatocytes. (1989) (18)
Familial occurrence of congenital laryngeal clefts. (1973) (18)
Copper Metabolism in Menkes’ Syndrome and Mottled Mouse Mutants (1982) (17)
Neonatal hepatic necrosis. (1969) (17)
Germ-line gene therapy: no place in treatment of genetic disease. (1994) (17)
Mutations affecting trace elements in humans and animals. A genetic approach to an understanding of trace elements. (1983) (17)
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia (1983) (16)
Screening for cystic fibrosis: use of ΔF508 mutation (1990) (16)
Copper metabolism in mottled mouse (Mus musculus) mutants. Studies of blotchy (Moblo) mice and a comparison with brindled (Mobr) mice. (1981) (16)
THE SANFILIPPO SYNDROME: CLINICAL, BIOCHEMICAL, RADIOLOGICAL, HAEMATOLOGICAL AND PATHOLOGICAL FEATURES OF NINE CASES (1972) (16)
Diagnosis of Wilson's disease in children with liver disease. A report of two families. (1969) (16)
Extrahepatic biliary atresia. Further comments on potentially operable cases. (1968) (16)
Heat illness in infants and young children: a study of 47 cases. 1962. (2004) (16)
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome (1990) (16)
Role of albumin's copper binding site in copper uptake by mouse hepatocytes. (1990) (16)
Cloning and sequencing of a sheep metallothionein cDNA. (1984) (16)
Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cells. (1981) (15)
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy (1988) (15)
Succinic semialdehyde dehydrogenase deficiency—A further case (1985) (15)
A new disorder of leucine metabolism (1977) (15)
Copper induction of translatable metallothionein messenger RNA (1981) (15)
Congenital cutis laxa (1986) (14)
Journal of Inherited Metabolic Disease (1991) (14)
Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue. (1974) (14)
Diagnosis of malignant hyperphenylalaninaemia. (1979) (14)
Metachromatic fibroblasts in pseudoxanthoma elasticum and Marfan's syndrome. (1969) (14)
VARIANT FORMS OF PHENYLKETONURIA (1976) (14)
Genetic aspects of respiratory disease. (1963) (14)
Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe. (1998) (14)
Autopsy findings in two siblings with infantile Refsum disease (2004) (13)
Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases. (1983) (12)
Precocious Type of Osteodysplasia (1973) (12)
Purification of inactive phenylalanine hydroxylase protein from liver in classical phenylketonuria (1976) (12)
4 Inborn errors of trace element metabolism (1985) (12)
Management of newborn babies in whom serious metabolic illness is anticipated. (1974) (12)
Homocystinuria, addisonian pernicious anaemia, and partial deletion of a G chromosome. (1969) (11)
DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD CELLS (1979) (11)
A social study of dwarfing conditions III. The social and emotional experiences of adults with bone dysplasias (1981) (11)
The effect of D-penicillamine on metallothionein mRNA levels and copper distribution in mouse hepatocytes. (1990) (11)
Hepatic ceruloplasmin gene expression is unaltered in the toxic milk mouse. (1991) (11)
EPIDEMIOLOGY OF HEPATITIS (1966) (11)
Secondary copper accumulation with neurological damage in child with chronic liver disease. (1978) (11)
PHENYLKETONURIA PHENOTYPE DETECTABLE IN FIBROBLASTS (1976) (10)
PENICILLAMINE IN WILSON'S DISEASE (1982) (10)
A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis (1995) (10)
A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionally copper deficient controls (1991) (10)
Mild Sanfilippo syndrome: a further cause of hyperactivity and behavioural disturbance. (1987) (10)
A social study of dwarfing conditions I. The reactions and questions of parents of children with bone dysplasias (1981) (10)
VARIANT FORMS OF PHENYLKETONURIA (1976) (9)
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. (1983) (9)
Retraction: No evidence for more than one locus in cystic fibrosis . (1984) (9)
Non-specific elevation of immunoreactive trypsinogen in sick infants (1993) (9)
Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease (1980) (9)
Developmental variation in copper, zinc and metallothionein mRNA in brindled mutant and nutritionally copper deficient mice. (1991) (9)
Complete follow-up in assessing fetal losses after chorion villus sampling (1990) (9)
The mucopolysaccharidoses (1987) (9)
Trimethylaminuria or fish odour syndrome in a child (1976) (9)
DIHYDROPTERIDINE REDUCTASE DEFICIENCY DIAGNOSIS BY ASSAYS ON PERIPHERAL BLOOD-CELLS (1979) (8)
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts. (1985) (8)
Demonstration of two forms of phenylalanine hydroxylase in human liver obtained at autopsy. (1973) (8)
Isolation of phenylalanine hydroxylase-stimulating monoclonal antibody by rat-myeloma--rat-spleen-cell fusion. (1980) (8)
SCREENING FOR AMINOACIDURIA: A CRITICAL EVALUATION OF FOUR TECHNIQUES AND A SURVEY OF A MENTALLY RETARDED POPULATION * (1972) (8)
Craniomandibular dermatodysostosis. (1974) (8)
Secretion of coppeer 64 into breast milk following intravenous injection in a human subject (1991) (8)
Phenylalanine hydroxylase activity in human foetal fibroblastic cells in culture. (1972) (8)
PAEDIATRICIANS' REPORTS TO GENERAL PRACTITIONERS: SHOULD PARENTS RECEIVE COPIES? (1994) (8)
A pedigree study of perinatally lethal renal disease. (1985) (8)
Mutations in humans and animals which affect copper metabolism (1983) (8)
Use of naphthoquinone adsorbent for the isolation of human dihydropteridine reductase. (1987) (7)
Hereditary Hyperammonaemic Syndromes — A Six Year Experience (1979) (7)
Simple method for cutting transverse sections of hair. Comments on shape of hair in Hurler and Sanfilippo syndromes. (1971) (7)
Pseudoprecocity in an Infant due to a Luteoma of the Ovary (1963) (7)
IS DEATH THE END? (1981) (7)
Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination. (1988) (7)
The Genetic Consequences of Incest (1978) (7)
Plan of management for newborn babies in whom metabolic disease is anticipated or suspected. (1976) (7)
Diuretic therapy in infants and children (1976) (7)
Inborn errors of trace element metabolism. (1985) (6)
Copper-induced dystonia secondary to cholestatic liver disease (1990) (6)
Carrier testing for cystic fibrosis (1993) (6)
Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. (1992) (6)
Cutis laxa with delayed development (1985) (6)
Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency (1982) (6)
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome) (1989) (6)
Maternal phenylketonuria: successful outcome in four pregnancies treated prior to conception (1988) (6)
Prenatal diagnosis of sex-linked hydrocephalus. (1983) (6)
mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers. (1995) (5)
Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect (1986) (5)
Bacterial antibodies in liver disease. (1972) (5)
Osebold-Remondini syndrome vs chondrodysplasia punctata. (1987) (5)
A social study of dwarfing conditions II. The experience of children with bone dysplasias, and of their parents (1981) (5)
Progress towards gene therapy (1988) (5)
Digital hypoplasia and anticonvulsants during pregnancy (1974) (5)
Screening for cystic fibrosis: use of delta F508 mutation. (1990) (5)
Zinc transport by fibroblasts from patients with acrodermatitis enteropathica (1989) (5)
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria. (1975) (5)
Carrier detection in ornithine transcarbamylase deficiency (1982) (5)
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency. (1974) (5)
Difficulty in showing mosaicism in the mother of three mongols. (1972) (5)
Observations on the Menkes' and brindled mouse phenotypes in cell hybrids (1984) (5)
Corneal and skin changes in tyrosinaemia (1975) (5)
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12. (1970) (5)
A precocious, autosomal recessive type of osteodysplasty. (1974) (4)
Metallothionein and Ceruloplasmin Genes (1988) (4)
Problems encountered in the diagnosis of galactosaemia (1976) (4)
A defect in deoxyribose metabolism. (1979) (4)
Tertiary lactic acidosis. (1981) (4)
Molecular biology of phenylalanine hydroxylase (1986) (4)
Abnormal deoxyribose metabolites in the urine of a child with a possible new inborn error of metabolism. (1979) (4)
Birth defects and the father (1983) (4)
PROSPECTS FOR THE PREVENTION OF GENETIC DISEASE (1973) (4)
Whither genetic services? (1993) (3)
Zinc, Copper and Metallothionein mRNA in Sheep Liver during Development (1988) (3)
The role of genomic imprinting (1993) (3)
DNA diagnostic tests: expanding role and evolving techniques. (1991) (3)
Copper Dependent Enzymes in Mottled Mouse Mutants (1981) (3)
Observations indicating the nature of the mutation in phenylketonuria (1979) (3)
Geleophysic dysplasia. (2020) (3)
MENKES'S KINKY HAIR SYNDROME (1972) (3)
Maternal serum screening for neural tube defects and Down's syndrome (1991) (3)
Genetics of the mammalian phenylalanine hydroxylase system. IV. Evidence of phenylalanine hydroxylase in a cultured human hepatoma cell line (1980) (3)
PALMOPLANTAR KERATODERMA WITH NORMAL INTELLIGENCE IN TYROSINAEMIA II (1988) (3)
The Role of Albumin in Copper Uptake by Hepatocytes and Fibroblasts (1988) (3)
Clinical Review : Prolonged Neonatal Obstructive Jaundice (1965) (2)
Blame, compensation and birth defects (1985) (2)
Blame, compensation and birth defects (1985) (2)
Studies oftheaetiology ofneonatal hepatitis andbiliary atresia (1977) (2)
Future developments in phenylketonuria. (1987) (2)
EFFECT OF PHENYLALANINE ON DIHYDROPTERIDINE REDUCTASE ACTIVITY IN PHENYLKETONRRIA FIBROBLASTS (1978) (2)
Editorial: Steely hair, mottled mice and copper metabolism. (1975) (2)
The impact of molecular genetics on clinical medicine (1993) (2)
Is mild deficiency of mitochondrial malonyl CoA decarboxylase a risk factor for hyperlipidemia? (1988) (2)
Metallothionein M RNA Levels in Normal and Mottled Mouse Mutants during Development (1988) (2)
Some thoughts on the Human Genome Project (1990) (2)
Phenylalanine hydroxylase activity. (1983) (2)
Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits (1983) (2)
Striatal degeneration in glutaric acidaemia type II (2004) (2)
The use of stable isotopes in the in vivo study of metabolic disorders (1975) (1)
DNA and clinical medicine. (1988) (1)
Birth Defects and Fetal Development: Endocrine and Metabolic Factors (1975) (1)
Gene therapy and related novel forms of treatment (1993) (1)
Letter to the Editor: Reply to Dr. Buist (1978) (1)
CURRENT PRACTICE Current Status of PKU Diagnosis and Treatment (1979) (1)
The effect of tetrathiomolybdate on the metabolism of copper by hepatocytes and fibroblasts (1989) (1)
Mitochondrial DNA deletion in a patient with combined features of Leigh and Pearson syndromes (1994) (1)
Doctors and genetic manipulation (1991) (1)
Hypohidrotic ectodermal dysplasia A study of sweat pores in the X-linked form and in a family with (1971) (1)
FETAL CHROMOSOME ABNORMALITIES (1985) (1)
Renal ultrasound examination of parents in dominantly inherited renal adysplasia--a note of caution. (1988) (1)
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)] (1991) (1)
Ketotic hypoglycaemia presenting as a life-threatening situation in a child with amelia (2005) (1)
Pteridines and phenylketonuria report of a workshop: Introductory comments (1978) (1)
MENKES' DISEASE: A DISORDER OF ZINC METABOLISM? (1989) (1)
Distribution of trace elements in normal and diseased mouse ileum and kidney tissues (1991) (1)
Some properties of phenylalanine hydroxylase in human foetal liver. (1973) (1)
Defining the location of the Huntington disease gene. (1993) (1)
Copper: Wilson and Menkes Diseases (1995) (1)
NEONATAL JAUNDICE IN DOWN'S SYNDROME (1965) (1)
Testing for Huntington's disease (1994) (1)
REYE'S SYNDROME AND ASPIRIN (1987) (0)
Achondroplasia and hypochondroplasia Comments on frequency, mutation rate, and radiological features in skull and spine (0)
THE SOCIAL PROBLEMS OF LITTLE PEOPLE (DWARFS) (1981) (0)
Australia . of a 20 year period in Victoria , X linked hydrocephalus : a survey (0)
DNA ii. clinical applications (1995) (0)
278 Phelan , Stocks , Williams , and Danks (0)
ORAL CONTRACEPTIVES (1967) (0)
Proceedings: The ultrastructure of the aorta of infant with Menkes' syndrome. (1974) (0)
Invited commentary (2005) (0)
Profound neurological illness, relieved by protein restriction, in a baby with a transient disturbance in the metabolism of ingested isoleucine (1987) (0)
An inborn error of metabolism with teratogenic effects (1981) (0)
Theuseofrestriction fragment length polymorphisms inprenatal diagnosis ofdihydropteridine reductase deficiency (1988) (0)
Menkes' syndrome (2005) (0)
Inborn errors of metabolism--a review of some general concepts. (1981) (0)
Reye’s syndrome and aspirin (1987) (0)
Failure to confirm abnormal copper utilization in crinkler (cr) mice (1981) (0)
MOLECULAR ANALYSIS OF HUMAN DIHYDROPTERIDINE REDUCTASE AND DIHYDROPTERIDINE REDUCTASE DEFICIENCY (1987) (0)
Human Dihydropteridine Reductase (DHPR) Deficiency (1983) (0)
THE INCIDENCE OF SKIN CONDITIONS IN A PRIVATE PRACTICE IN WESTERN AUSTRALIA (1967) (0)
Identification of mucopolysaccharidoses. (1973) (0)
Deoxyribose-5-phosphate aldolase deficiency — A harmless inborn error of metabolism (1983) (0)
Two-dimensional polyacrylamide gel analysis of fibroblast polypeptides: Discussion of its Relevance for inherited diseases (1981) (0)
Current status of PKU diagnosis and treatment. (1979) (0)
Metabolic studies in unusual forms of tyrosinaemia (1975) (0)
Postoperative ascending cholangitis following portoenterostomy for biliary atresia: measures and control. Invited commentary. (1978) (0)
Metallothionein m-RNA in Neonatal and Adult Rat Livers (1981) (0)
Genetic Disorders of Copper Transport: Menkes’ Disease, Occipital Horn Syndrome, and Wilson’s Disease (1990) (0)
The application of chemical ionization mass spectrometry to the identification of urinary peptides (1977) (0)
A new classification of osteogenesis imperfecta (1980) (0)
Paediatric Research Society of Australia: PAPERS PRESENTED AT 9TH ANNUAL MEETING (1976) (0)
Letter: Diuretic therapy in infants and children. (1976) (0)
FETAL CHROMOSOME ABNORMALITIES (1984) (0)
Inborn errors of metabolism. Variability within single diseases. (1971) (0)
Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin (1985) (0)
SALMONELLA INFECTIONS IN AUSTRALIA (1967) (0)
Comment on the Diagnosis of Inborn Errors of Metabolism in Australia (1976) (0)
A screening test for sulphur-containing metabolites in urine using auxotrophic mutants of Escherichia coli K12. (1975) (0)
Red cell survival in galactosemia. (1967) (0)
Human Genetics Society of Australia Abstracts of Papers Presented at the 8th Annual Meeting Melbourne, 16‐19 May 1984 (1985) (0)
Ethics committees (1991) (0)
Failure to Confirm Copper Deficiency in Crinkled Mice (1981) (0)
JAUNDICE AND SEVERE INFECTION (1966) (0)
A geneticist’s view of A.I.D (1983) (0)
Studies of the Sanfilippo variety of mucopolysaccharidosis (1969) (0)
“Cerebral” lactic acidosis and cerebrospinal fluid pH (1988) (0)
Metabolic Causes of Mental Retardation an Appreciation of the Contribution of the Late Dr. Brian Turner (1976) (0)
THALASSAEMIA * (1968) (0)
Bacterial antibodies in liver disease. (1972) (0)
Rationalisation of paediatric services. (1982) (0)
BILIARY ATRESIA: LESSONS FROM JAPAN (1981) (0)
Current developments in the assessment of inborn errors of metabolism: a review (1975) (0)
DNA i. approach and techniques (1995) (0)
Spurenelemente - Analytik, Umsatz, Bedarf Mangel und Toxikologie - Symposium in Bad Kissingen 1977 (1979) (0)
The geneticist and spina bifida. (1973) (0)
Letter: Digital hypoplasia and anticonvulsants during pregnancy. (1974) (0)
X‐radiation during pregnancy (1983) (0)
LETTERS TO THE EDITOR (0)
Irish Endocrine Society (1982) (0)
X linked hydrocephalus: a surveyofa20yearperiod inVictoria, Australia (1986) (0)
The Frequency of Potentially Operable Cases (2017) (0)
Working for the children (2000) (0)
Ornithine transcarbamylase (OTC) Deficiency in a large kindred (1981) (0)
THE HARMFUL EFFECTS OF ANTIHISTAMINES (1966) (0)
180: A HEREDITARY DEFECT OF THE TRANSFORMATION OF P-HYDROXYPHENYLPYRUVATE INTO HOMOGENTISIC ACID (1976) (0)
Computer-assisted syndrome identification (1983) (0)
DOCTORS FOR THE ARMY (1966) (0)

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University of Melbourne

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