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The consequences of extended newborn screening programmes: Do we know who needs treatment?

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.173-177

Wilcken, B.

2008

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Recent advances in newborn screening

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.129-133

Wilcken, B.

2007

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Selection of reference genes for quantitative real-time PCR analysis in canine mammary tumors using the GeNorm algorithm

Veterinary pathology, 2006-11, Vol.43 (6), p.934-942

2006

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Glutaric aciduria type I: outcome following detection by newborn screening

Journal of inherited metabolic disease, 2008-08, Vol.31 (4), p.503-507

2008

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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.5-22

2007

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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

Journal of medical genetics, 2003-08, Vol.40 (8), p.619-625

2003

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The natural history of vascular disease in homocystinuria and the effects of treatment

Journal of inherited metabolic disease, 1997-06, Vol.20 (2), p.295-300

1997

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An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples

Annals of clinical biochemistry, 2011-09, Vol.48 (Pt 5), p.468-470

2011

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Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.291-298

Wilcken, B.

2001

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Mapping spatial and field dependence of magnetic domain memory by soft X-ray speckle metrology

Journal of synchrotron radiation, 2012-05, Vol.19 (3), p.293-306

2012

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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Neurology, 2010-09, Vol.75 (12), p.1079-1083

2010

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Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

Molecular genetics and metabolism, 2010, Vol.99 (1), p.34-41

2010

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n of 1 trial for an ornithine transcarbamylase deficiency carrier

Molecular genetics and metabolism, 2008-06, Vol.94 (2), p.157-161

2008

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Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

The New England journal of medicine, 2003-06, Vol.348 (23), p.2304-2312

2003

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Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

Acta Paediatrica, 1999-12, Vol.88 (s432), p.48-51

1999

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Vascular Complications of Severe Hyperhomocysteinemia in Patients with Homocystinuria Due to Cystathionine β-Synthase Deficiency: Effects of Homocysteine-Lowering Therapy

Seminars in thrombosis and hemostasis, 2000, Vol.26 (3), p.335-340

2000

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Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

Archives of disease in childhood. Fetal and neonatal edition, 2001-09, Vol.85 (2), p.F105-F109

2001

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Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening

Molecular genetics and metabolism, 2007-04, Vol.90 (4), p.446-448

2007

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Newborn screening may fail to identify intermediate forms of maple syrup urine disease

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.586-586

2006

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Newborn screening for cystic fibrosis: Techniques and strategies

Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.537-543

Wilcken, Bridget

2007

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Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

The European respiratory journal, 2001-06, Vol.17 (6), p.1195-1200

2001

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Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

The Lancet (British edition), 1993-02, Vol.341 (8842), p.407-408

1993

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Clinical outcomes of newborn screening for cystic fibrosis

Archives of disease in childhood. Fetal and neonatal edition, 1999-01, Vol.80 (1), p.F1-F7

1999

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Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region

Molecular psychiatry, 2002-01, Vol.7 (6), p.652-657

2002

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Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

Arteriosclerosis, thrombosis, and vascular biology, 2001-12, Vol.21 (12), p.2080-2085

2001

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The consequences of extended newborn screening programmes: Do we know who needs treatment?

Recent advances in newborn screening

Selection of reference genes for quantitative real-time PCR analysis in canine mammary tumors using the GeNorm algorithm

Glutaric aciduria type I: outcome following detection by newborn screening

Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

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

The natural history of vascular disease in homocystinuria and the effects of treatment

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples

Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

Mapping spatial and field dependence of magnetic domain memory by soft X-ray speckle metrology

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

n of 1 trial for an ornithine transcarbamylase deficiency carrier

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia

Vascular Complications of Severe Hyperhomocysteinemia in Patients with Homocystinuria Due to Cystathionine β-Synthase Deficiency: Effects of Homocysteine-Lowering Therapy

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

Newborn screening for cystic fibrosis: Techniques and strategies

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

Clinical outcomes of newborn screening for cystic fibrosis

Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

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