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Research article

First published 2017-11

The role of calculated non-caeruloplasmin-bound copper in Wilson’s disease

Andrew Duncan, Calum Yacoubian, Robert Beetham [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2015-1

The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre

Oliver Clifford-Mobley, Christopher Tims, Gill Rumsby

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Review article

First published 2017-3

Best practice guidelines on first-line laboratory testing for porphyria

Jacqueline Woolf, Joanne T Marsden, Timothy Degg [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Case report

First published 2024-3

Case report: Skin protective barrier cream interference in benzethonium chloride method for urine protein measurement in a 6-month-old girl

Ömer Özcan, Joanna AE van Wijk, Annet M Bosch [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2023-3

UK National audit of the measurement of ammonia

Helen Aitkenhead

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 2018-7

An inductively coupled plasma mass spectrometry method for relative free copper determination and generation of a paediatric reference interval

P Wainwright, D Wadey, P Cook

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Other

First published 1995-11

The Role of L-Carnitine in Pediatric Cardiomyopathy

Susan Winter, Kenneth Jue, James Prochazka [...]

Journal of Child Neurology

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Research article

First published 2002-12

Classification of Infantile Seizures: Implications for Identification and Treatment of Inborn Errors of Metabolism

R. Nordli Douglas, C. De Vivo Darryl

Journal of Child Neurology

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Review article

First published 2019-10

Current Status on Clinical Development of Adeno-Associated Virus-Mediated Liver-Directed Gene Therapy for Inborn Errors of Metabolism

Virginia Maria Ginocchio, Rita Ferla, Alberto Auricchio [...]

Human Gene Therapy

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Research article

First published 2012-05

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

Imen Ben-Rebeh, Jozef L. Hertecant, Fatma A. Al-Jasmi [...]

Genetic Testing and Molecular Biomarkers

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