Bridget M. Wilcken

Bridget M. Wilcken's AcademicInfluence.com Rankings

Bridget M. Wilcken

Biology

#10945

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#14311

Historical Rank

Genetics

#1172

World Rank

#1272

Historical Rank

Molecular Biology

#1640

World Rank

#1668

Historical Rank

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Biology

Bridget M. Wilcken's Degrees

PhD Genetics Stanford University

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Bridget M. Wilcken'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

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. (1985) (1316)
Screening newborns for inborn errors of metabolism by tandem mass spectrometry. (2003) (615)
The pathogenesis of coronary artery disease. A possible role for methionine metabolism. (1976) (553)
The pathogenesis of coronary artery disease (1976) (481)
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide (2003) (469)
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project (2011) (295)
Diagnosis and management of glutaric aciduria type I – revised recommendations (2011) (268)
Vascular Outcome in Patients With Homocystinuria due to Cystathionine &bgr;-Synthase Deficiency Treated Chronically: A Multicenter Observational Study (2001) (249)
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. (1983) (230)
Homocysteine and its disulfide derivatives: a suggested consensus terminology. (2000) (227)
European best practice guidelines for cystic fibrosis neonatal screening. (2009) (225)
‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry (2006) (214)
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (1993) (199)
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (2010) (186)
The natural history of vascular disease in homocystinuria and the effects of treatment (1997) (174)
Clinical outcomes of newborn screening for cystic fibrosis (1999) (159)
Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. (1983) (143)
Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years (2009) (141)
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) (2007) (140)
Reviews and Notes: Genetics: The Metabolic and Molecular Bases of Inherited Disease (1995) (139)
Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. (1995) (136)
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study (2007) (130)
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. (1990) (128)
Fatty acid oxidation disorders: outcome and long-term prognosis (2010) (125)
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? (1997) (123)
Current issues regarding treatment of mitochondrial fatty acid oxidation disorders (2010) (115)
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency (2013) (114)
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. (2000) (114)
The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. (2007) (110)
Enhanced interpretation of newborn screening results without analyte cutoff values (2012) (109)
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia (1999) (106)
REDUCED MORBIDITY IN PATIENTS WITH CYSTIC FIBROSIS DETECTED BY NEONATAL SCREENING (1985) (99)
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. (2001) (99)
Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders (2002) (98)
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies (2001) (94)
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (2006) (92)
Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring. (1991) (91)
The neurological syndrome of infantile cobalamin deficiency: Developmental regression and involuntary movements (1997) (91)
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (1994) (91)
Problems in the management of urea cycle disorders. (2004) (87)
Iodine status in pregnant women and their newborns: are our babies at risk of iodine deficiency? (2006) (84)
Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region (2002) (82)
Relationship between homocysteine and superoxide dismutase in homocystinuria: possible relevance to cardiovascular risk. (2000) (77)
Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. (2001) (76)
AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal Spf(ash) mice. (2009) (73)
Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study. (2016) (67)
Neonatal thyroid‐stimulating hormone concentrations in northern Sydney: further indications of mild iodine deficiency? (2002) (64)
Postpartum maternal iodine status and the relationship to neonatal thyroid function. (2003) (63)
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals (2012) (62)
Validation of dye‐binding/high‐resolution thermal denaturation for the identification of mutations in the SLC22A5 gene (2005) (62)
Diagnostic delay in cystic fibrosis: lessons from newborn screening. (1983) (62)
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test (2011) (62)
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy (2002) (61)
Sweat testing following newborn screening for cystic fibrosis (2000) (60)
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (2014) (60)
Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism (1994) (59)
Glutaric aciduria type I: outcome following detection by newborn screening (2008) (59)
Reproductive decisions after neonatal screening identifies cystic fibrosis (2000) (58)
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. (1980) (56)
Expanded newborn screening: reducing harm, assessing benefit (2010) (56)
PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS (1985) (56)
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era (2017) (54)
Newborn screening for cystic fibrosis: Its evolution and a review of the current situation (1993) (53)
Rare diseases and the assessment of intervention: What sorts of clinical trials can we use? (2001) (52)
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency (2002) (52)
Mutations in the AUH gene cause 3‐methylglutaconic aciduria type I (2003) (52)
The molecular basis of cystathionine β‐synthase deficiency in Australian patients: Genotype–phenotype correlations and response to treatment (2002) (51)
Expanded newborn screening in New South Wales: missed cases (2014) (49)
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders. (2002) (48)
Ethical issues in newborn screening and the impact of new technologies (2003) (48)
Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. (2000) (47)
Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders. (2002) (47)
Antenatal diagnosis of glutaric acidemia. (1980) (46)
Neonatal thyrotropin as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. (2005) (46)
Recent advances in newborn screening (2007) (45)
Dicarboxylic aciduria: the response to fasting. (1979) (45)
Newborn screening methods for cystic fibrosis. (2003) (44)
Natural history of Hartnup disease. (1977) (44)
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (1993) (40)
Clinical approach to inborn errors of metabolism presenting in the newborn period (2002) (40)
Economic Evaluation of Tandem Mass Spectrometry Newborn Screening in Australia (2009) (40)
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience. (2005) (39)
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. (1981) (38)
PROPOSED ASSIGNMENT OF LOCI FOR X-LINKED ADRENAL HYPOPLASIA AND GLYCEROL KINASE GENES (1985) (38)
Investigation of Epistasis Between the Serotonin Transporter and Norepinephrine Transporter Genes in Anorexia Nervosa (2003) (38)
Newborn screening. (2008) (38)
Newborn screening for cystic fibrosis: Techniques and strategies (2007) (38)
The consequences of extended newborn screening programmes: Do we know who needs treatment? (2008) (38)
Two‐year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia (2008) (37)
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. (2000) (36)
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. (2014) (36)
B Vitamins and Homocysteine in Cardiovascular Disease and Aging (1998) (35)
Homocystinuria. Reduced folate levels during pyridoxine treatment. (1973) (35)
Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype) (2003) (35)
3-Methylglutaconic aciduria type I redefined (2010) (34)
Prevalence of maternal HIV infection based on anonymous testing of neonates, Sydney 1989 (1990) (33)
Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening (2007) (32)
HEARING LOSS IN BIOTINIDASE DEFICIENCY (1983) (32)
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. (2001) (30)
Neonatal screening for cystic fibrosis: present and future (1999) (29)
Methylenetetrahydrofolate reductase (MTHFR) mutation, homocyst(e)ine, and coronary artery disease. (1997) (29)
Homocystinuria in New South Wales. (1978) (27)
Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. (2002) (27)
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile (2001) (27)
l-2-Hydroxyglutaric aciduria: Three Australian cases (1993) (27)
Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency. (2010) (26)
Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. (2006) (26)
Assessment of pancreatic function in screened infants with cystic fibrosis (1991) (26)
Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening. (2007) (25)
Maternal attitudes to newborn screening for fragile X syndrome (2013) (25)
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate (2015) (25)
Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. (2008) (25)
AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spfash Mice. (2009) (24)
Newborn Screening: Gaps in the Evidence (2013) (24)
Disorders of Sulfur Amino Acid Metabolism (2006) (24)
An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples (2011) (23)
Newborn screening: how are we travelling, and where should we be going? (2011) (22)
Fifty years of newborn screening (2015) (22)
First prenatal diagnosis of the carnitine transporter defect. (1996) (22)
INCIDENCE OF HOMOCYSTINURIA (1975) (22)
International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions. (2009) (22)
Siblings with γ-glutamyltransferase deficiency (1995) (22)
Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function (2006) (22)
Hyperammonemic encephalopathy complicating bariatric surgery: a case study and review of the literature. (2014) (21)
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program (1990) (21)
Clumsiness, confusion, coma, and valproate (1999) (21)
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes (2001) (20)
Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion (2006) (20)
Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase. (1979) (19)
Fatal late‐onset ornithine transcarbamylase deficiency after coronary artery bypass surgery (2007) (19)
Neonatal screening for lysosomal storage disorders (2012) (19)
Screening for metabolic diseases in New South Wales. (1973) (18)
3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease. (1984) (17)
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. (2016) (17)
3-METHYLGLUTACONIC ACIDURIA TYPE I REDEFINED, A SYNDROME WITH LATE ONSET LEUKOENCEPHALOPATHY (2010) (17)
Sialuria: a second case (1987) (17)
Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course. (2007) (17)
Sapropterin Review of its Use in the Treatment of Primary Hyperphenylalaninaemia (2009) (17)
Neuropsychological Functioning in Children with Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency (MCADD): The Impact of Early Diagnosis and Screening on Outcome (2008) (17)
Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5 (2002) (16)
More evidence to favour newborn screening for cystic fibrosis (2007) (16)
Acid soaps in the fish odour syndrome (1993) (15)
Perimortem laboratory investigation of genetic metabolic disorders. (2004) (15)
The association of protein-losing enteropathy with cobalamin C defect (1998) (15)
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (1995) (15)
The management of pregnancy in maple syrup urine disease: experience with two patients. (2013) (15)
The case for newborn screening for congenital adrenal hyperplasia in Australia (2010) (15)
Pregnancy and argininosuccinic aciduria (1996) (14)
Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias. (2011) (14)
Mini-Symposium: Newborn screening for inborn errors of metabolism—Clinical effectiveness (2006) (14)
Screening for disease in the newborn: the evidence base for blood-spot screening. (2012) (14)
The implication of phenylketonuria on oral health. (1999) (13)
The first prenatal diagnosis for veno‐occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110 (2007) (13)
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1992) (13)
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. (2016) (13)
Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency. (1977) (12)
Newborn screening for metabolic disorders: how are we doing, and where are we going? (2012) (12)
Neonatal screening for cystic fibrosis: It is time (1998) (12)
Neonatal screening for cystic fibrosis (2000) (12)
Screening for cystic fibrosis by a stool trypsin method. (1981) (12)
Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency (1997) (12)
3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing (2002) (12)
Suspected defect in fatty acid oxidation. (1978) (11)
Siblings with gamma-glutamyltransferase deficiency. (1995) (11)
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry (1999) (11)
Leukoencephalopathies Associated with Disorders of Cobalamin and Folate Metabolism (2012) (11)
gamma-Glutamylglutamine identified in plasma and cerebrospinal fluid from hyperammonaemic patients. (1990) (11)
Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency. (2010) (11)
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? (2016) (11)
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. (2012) (10)
n of 1 trial for an ornithine transcarbamylase deficiency carrier. (2008) (10)
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (2008) (10)
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. (2013) (10)
An evaluation of screening for cystic fibrosis. (1987) (10)
The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. (2007) (9)
SURVIVAL IN CYSTIC FIBROSIS (1984) (9)
The Natural History of Homocystinura Due to Cystathionine jP-Synthase Deficiency (2006) (9)
Biochemical Methods in Medical Genetics (1978) (9)
An introduction to nutritional treatment in inborn errors of metabolism--different disorders, different approaches. (2003) (9)
HYPERAMMONÆMIA AND URINARY ORGANIC ACIDS (1979) (9)
Disorders of the carnitine cycle and detection by newborn screening. (2008) (9)
Dihydropyrimidine dehydrogenase deficiency — A further case (1985) (9)
Ethical issues in genetics (2011) (8)
Newborn screening--is it really that simple? (2003) (8)
Delayed diagnosis of cystic fibrosis in children with a rare genotype (delta F508/R117H). (1995) (8)
FAILURE TO IDENTIFY HETEROZYGOTES FOR GALACTOSAEMIA IN WOMEN WITH PREMATURE OVARIAN FAILURE (1987) (7)
DIAGNOSIS OF CYSTIC FIBROSIS (1987) (7)
GENETIC SCREENING OF THE NEWBORN IN AUSTRALIA (1977) (7)
Evaluating outcomes of newborn screening programs. (2003) (7)
The mild form of menkes disease: a 34 year progress report on the original case. (2013) (7)
Non-ketotic hyperglycinaemia presenting as pachygyria (1995) (7)
Association of elevated neonatal thyroid-stimulating hormone levels with school performance and stimulant prescription for attention deficit hyperactivity disorder in childhood (2020) (6)
Genetic screening of newborn in Australia Results for 1980 (1982) (6)
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE. (2019) (6)
Neonatal screening in Australia. (1999) (6)
Homozygous cystinuria in New South Wales (1984) (6)
Therapeutic targets in homocystinuria due to cystathionine β-synthase deficiency: new European guidelines (2017) (6)
Increased iodine deficiency in Victoria, Australia: analysis of neonatal thyroid‐stimulating hormone data, 2001 to 2006 (2011) (6)
Cystic fibrosis: refining the approach to newborn screening. (2009) (6)
Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis. (2008) (6)
Family studies in ornithine transcarbamylase deficiency. (1988) (6)
Prevalence of unsuspected urinary bacterial contamination: effects of screening tests for detection of inborn errors of metabolism. (1978) (6)
Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come? (2018) (6)
The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome (2000) (5)
Newborn screening for metabolic disorders in Australia and New Zealand: results for 1983: HumanGenetics Society of Australasia Newborn Screening Committee (1985) (5)
Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts (1996) (5)
The Long-Term Outcome in Homocystinuria (1997) (5)
Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study (2018) (5)
Tyrosine supplementation as an adjunct treatment in anorexia nervosa – a noradrenergic repletion hypothesis (2013) (5)
Genetic screening of newborn in Australia. Results for 1981. (1983) (5)
Using record linkage to investigate perinatal factors and neonatal thyroid‐stimulating hormone (2015) (5)
An unusual cause of hepatitis (2001) (5)
REDUCED MORBIDITY IN CYSTIC FIBROSIS (1986) (5)
Tyrosinaemia II (1984) (4)
The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa (1997) (4)
Clinical practice and the development of evidence (2012) (4)
Sialuria: a follow-up report (1991) (4)
Reduced glutathione, γ-glutamylcysteine, cysteine and γ-glutamylglutamine in γ-glutamyltransferase deficiency (1999) (4)
Letter: Incidence of homocystinuria. (1975) (4)
DETECTION OF ABNORMAL SULPHUR‐CONTAINING AMINO ACID EXCRETION IN A MASS URINE‐SCREENING PROGRAMME (1972) (4)
Newborn screening for congenital adrenal hyperplasia: testing to commence in New South Wales. (1996) (3)
A defect in cobalamin (Vitamin B12) metabolism associated with homocystinuria and methylmalonic acldurla (1983) (3)
Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis (2000) (3)
Does every baby get a newborn screening test? (2003) (3)
Newborn screening for all identifiable disorders with tandem mass spectrometry is cost effective: the negative case. (2008) (3)
Cystic fibrosis screening and community genetics. (1991) (3)
Newborn Screening for Inborn Errors of Metabolism (2012) (3)
Information overload--new technologies, can we store the data? (2003) (2)
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns (1991) (2)
Treatments for rare diseases: molybdenum cofactor deficiency (2015) (2)
Long‐term outcomes for patients with cystic fibrosis in Australia (2011) (2)
Urinary metabolic profiling for detection of metabolic disorders: assessment report (2009) (2)
Congenital adrenal hyperplasia: one hundred years of data. (2013) (2)
Eliminating some possible errors in phenylketonuria screening. (1989) (2)
Screening for spinal muscular atrophy (2018) (2)
The clinical spectrum of cytochrome c deficiency in Leigh syndrome patients with and without mutations in the SURF1 gene (2000) (2)
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series (2021) (1)
Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency. (1999) (1)
1. HMG CoA SYNTHASE DEFICIENCY- HOW COMMON IS IT AND HOW GOOD ARE OUR MARKERS? (2012) (1)
Congenital hypothyroidism: check the siblings (1995) (1)
Metabolic effects of repeated exposure to nitrous oxide: a preliminary report (2010) (1)
NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: A COHORT STUDY COMPARING OUTCOME IN SCREENED AND CLINICALLY DIAGNOSED PATIENTS AT SIX YEARS OF AGE (2009) (1)
Book Review The Metabolic and Molecular Bases of Inherited Disease Eighth edition. Edited by Charles R. Scriver, with six others. 5568 pp. in four volumes, illustrated. New York, McGraw-Hill, 2001. $550. 0-07-913035-6 (2001) (1)
History of the International Society for Neonatal Screening. (2003) (1)
Newborn screening for inherited metabolic disease (2007) (1)
GENETIC SCREENING OF THE NEWBORN IN AUSTRALIA (1977) (1)
Improving child health--newborn screening for all? (2008) (1)
Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example (2021) (1)
Screening of newborns for metabolic disorders with mass spectrometry. (2004) (1)
Dicarboxylic aciduria: A possible defect in fatty acid metabolism (1979) (0)
Association or causation: Symptoms and rare disease (2019) (0)
Diagnosis of cystic fibrosis. (1987) (0)
Reviewer ' s report Imparting carrier status results detected by universal newborn screening for sickle cell and cystic (2007) (0)
Homocystinuria (1973) (0)
C l u m s i n e s s ,c o n f u s i o n ,c o m a , and valproate (1999) (0)
The ward round (2014) (0)
ONE MILLION BABIES (1979) (0)
Homocystinuria TABLE Clinical data , response to pyridoxine , and serum and red cell folate levels in 9 homocystinuric patients Age at Clinical Response Serum FAA Lowest serum Lowest RCFAA (2006) (0)
Proposal for a joint WHO/ICF-(M)A programme for neonatal screening for cystic fibrosis (1991) (0)
Progressing our understanding of the impacts of nutrition on the brain and behaviour in anorexia nervosa: a tyrosine case study example (2021) (0)
SEQUELÆ OF COVERT BACTERIURIA IN SCHOOLGIRLS (1978) (0)
Oral Tyrosine Supplementation Facilitates Conditions for the Preferential Transport of Tyrosine Across the Blood-Brain Barrier in Anorexia Nervosa: a Case Study Series (2021) (0)
Controversies in newborn screening (2017) (0)
Controversies in newborn screening (2017) (0)
LETTERS TO THE EDITOR (1981) (0)
Cystic fibrosis screening of 41 000 neonates, using a dried blood spot immuno-reactive trypsin assay (1983) (0)
SCREENING FOR NEONATAL HYPOTHYROIDISM (1979) (0)
HEALTHCARE USE AND COSTS OF MCADD IN AUSTRALIA : SCREENING VERSUS NO SCREENING (2009) (0)
Family studies inornithine transcarbamylase deficiency (2011) (0)
Deficiency Treated Chronically : A Multicenter Observational Study-Synthase β Vascular Outcome in Patients With Homocystinuria due to Cystathionine (2001) (0)
Cystic fibrosis: onset of symptoms, delay in clinical diagnosis, and the implications for newborn screening (1984) (0)
Record-linkage is a feasible method for investigating the relationship between perinatal factors, maternal and neonatal thyroid stimulating hormone (2015) (0)
A proposed scheme for galactosemia screening (1984) (0)
249 Immuno-Reactive Trypsinogen (IRT) reflects pancreatic status in CF and non-CF adults (2006) (0)
Long term stability of endogenous tsh in dried blood spots (1982) (0)
Letters to the Editor (2008) (0)
Screening for hypothyroidism: Age of sample and chance of its falling below the cut-off point (1981) (0)
What is the best screening test for primary hypothyroidism in the neonate? evidence in favour of T.S.H (1983) (0)
Ethical and social issues in newborn screening. (1999) (0)
replacement therapies can cost hundreds of thousands of pounds per life-year gained. (2015) (0)
Genetic Screening of the Newborn in Australia (1978) (0)
LETTER TO THE EDITOR (1979) (0)

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