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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

Bone (New York, N.Y.), 2017-01, Vol.94, p.65-74

2017

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Cumulative life course and adult socioeconomic status and markers of inflammation in adulthood

Journal of epidemiology and community health (1979), 2008-06, Vol.62 (6), p.484-491

2008

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Introducing new screens: Why are we all doing different things?

Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.423-429

Pollitt, R. J.

2007

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Commentary: What degree of hyperphenylalaninaemia requires treatment?

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.927-930

Pollitt, R. J.

2012

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International perspectives on newborn screening

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.390-396

Pollitt, R. J.

2006

Volltextzugriff (PDF)

Newborn blood spot screening: New opportunities, old problems

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.395-399

Pollitt, R. J

2009

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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

Archives of disease in childhood, 1998-08, Vol.79 (2), p.116-119

1998

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Say It Out Loud! Read-Aloud Book Club

Children & libraries, 2021-10, Vol.19 (3), p.20-21

Pollitt, Katrina R.

2021

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Fever and Rash One Month After Orthotopic Liver Transplantation

American journal of transplantation, 2013-01, Vol.13 (1), p.236-238

2013

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Femoral Artery Dissection in Vascular Type Ehlers–Danlos Syndrome; Leave Well Alone?

European journal of vascular and endovascular surgery, 2012-03, Vol.43 (3), p.341-342

2012

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A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease

Annals of the Royal College of Surgeons of England, 2015-07, Vol.97 (5), p.e73

2015

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Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome

Clinical and experimental dermatology, 2013-07, Vol.38 (5), p.517-519

2013

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Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

Journal of inherited metabolic disease, 2003-01, Vol.26 (6), p.543-557

2003

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Qualitative urinary organic acid analysis: Methodological approaches and performance

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.690-696

2008

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2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.477-482

2002

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Disorders of mitochondrial long‐chain fatty acid oxidation

Journal of inherited metabolic disease, 1995-07, Vol.18 (4), p.473-490

Pollitt, R. J.

1995

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Neonatal screening for inborn errors of metabolism: cost, yield and outcome

Health technology assessment (Winchester, England), 1997, Vol.1 (7), p.i-iv

1997

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Population quantile‐quantile plots for monitoring assay performance in newborn screening

Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.607-607

2007

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Children with recurrent fractures and low bone mass or idiopathic juvenile osteoporosis may have abnormalities in the canonical Wnt-signalling pathway through LRP5

Bone (New York, N.Y.), 2007-06, Vol.40 (6), p.S71-S72

2007

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Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2000-07, Vol.23 (5), p.497-504

2000

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Focus on neonatal screening

Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.417-417

2007

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Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

Biochemical and biophysical research communications, 1992-03, Vol.183 (2), p.443-448

1992

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Principles and performance: assessing the evidence

Acta Paediatrica, 1999-12, Vol.88 (s432), p.110-114

Pollitt, RJ

1999

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Newborn mass screening versus selective investigation: Benefits and costs

Journal of inherited metabolic disease, 2001-04, Vol.24 (2), p.299-302

Pollitt, R. J.

2001

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Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

Cumulative life course and adult socioeconomic status and markers of inflammation in adulthood

Introducing new screens: Why are we all doing different things?

Commentary: What degree of hyperphenylalaninaemia requires treatment?

International perspectives on newborn screening

European best practice guidelines for cystic fibrosis neonatal screening

Newborn blood spot screening: New opportunities, old problems

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

Say It Out Loud! Read-Aloud Book Club

Fever and Rash One Month After Orthotopic Liver Transplantation

Femoral Artery Dissection in Vascular Type Ehlers–Danlos Syndrome; Leave Well Alone?

A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease

Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

Qualitative urinary organic acid analysis: Methodological approaches and performance

2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man

Disorders of mitochondrial long‐chain fatty acid oxidation

Neonatal screening for inborn errors of metabolism: cost, yield and outcome

Population quantile‐quantile plots for monitoring assay performance in newborn screening

Children with recurrent fractures and low bone mass or idiopathic juvenile osteoporosis may have abnormalities in the canonical Wnt-signalling pathway through LRP5

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Focus on neonatal screening

Human liver long-chain 3-hydroxyacyl-coenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

Principles and performance: assessing the evidence

Newborn mass screening versus selective investigation: Benefits and costs

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