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Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening

JIMD Reports, Volume 38, 2018-01, Vol.38, p.75-80

2018

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.533-544

2005

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The organisation of training for laboratory scientists in Inherited Metabolic Disease, Newborn Screening and Paediatric Clinical Chemistry

Clinical biochemistry, 2014-06, Vol.47 (9), p.763-764

Bonham, J.R.

2014

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Expanded newborn screening — Progress into practice

Clinical biochemistry, 2014-06, Vol.47 (9), p.697-698

Bonham, J.R.

2014

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Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Developmental medicine and child neurology, 2008-02, Vol.50 (2), p.157-159

2008

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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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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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Pitfalls in the measurement of some intermediary metabolites

Annals of clinical biochemistry, 2003-07, Vol.40 (Pt 4), p.313

2003

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Features of carnitine palmitoyltransferase type I deficiency

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.35-42

2001

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Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria

Journal of inherited metabolic disease, 2002-05, Vol.25 (2), p.107-118

2002

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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.174-184

1999

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Guidelines for the investigation and management of a reduced level of consciousness in children: implications for clinical biochemistry laboratories

Annals of clinical biochemistry, 2007-11, Vol.44 (Pt 6), p.506

2007

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Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia

Annals of clinical biochemistry, 1999-05, Vol.36 ( Pt 3), p.372

1999

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Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

Journal of inherited metabolic disease, 1997-09, Vol.20 (5), p.714-715

1997

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Determination of antimony in urine, blood and serum and in liver and lung tissues of infants by inductively coupled plasma mass spectrometry

Analyst (London), 1997-11, Vol.122 (11), p.1323-1329

1997

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Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.289-292

1999

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The Investigation of Hypoglycaemia during Childhood

Annals of Clinical Biochemistry, 1993-05, Vol.30 (3), p.238-247

Bonham, J R

1993

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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

American journal of human genetics, 2007-05, Vol.80 (5), p.931-937

2007

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Decreased circulating plasma lipids in patients with homocystinuria

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.243-246

1999

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Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.88-89

1999

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The significance of reduced respiratory chain enzyme activities: Clinical, biochemical and radiological associations

European journal of paediatric neurology, 2006-03, Vol.10 (2), p.78-82

2006

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Hyperammonemia with complex urinary tract anomaly: a case report

Journal of pediatric surgery, 2003-11, Vol.38 (11), p.E16-E17

2003

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Assessment of stool colour in community management of prolonged jaundice in infancy

Acta Paediatrica, 1999-09, Vol.88 (9), p.969-974

1999

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Vitreous humour and cerebrospinal fluid hypoxanthine concentration as a marker of pre-mortem hypoxia in SIDS

Journal of clinical pathology, 1993-07, Vol.46 (7), p.650-653

1993

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Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress

International journal of neonatal screening, 2024-04, Vol.10 (2), p.30

2024

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Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

The organisation of training for laboratory scientists in Inherited Metabolic Disease, Newborn Screening and Paediatric Clinical Chemistry

Expanded newborn screening — Progress into practice

Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Qualitative urinary organic acid analysis: Methodological approaches and performance

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

Pitfalls in the measurement of some intermediary metabolites

Features of carnitine palmitoyltransferase type I deficiency

Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

Guidelines for the investigation and management of a reduced level of consciousness in children: implications for clinical biochemistry laboratories

Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia

Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

Determination of antimony in urine, blood and serum and in liver and lung tissues of infants by inductively coupled plasma mass spectrometry

Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysis

The Investigation of Hypoglycaemia during Childhood

Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway

Decreased circulating plasma lipids in patients with homocystinuria

Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II

The significance of reduced respiratory chain enzyme activities: Clinical, biochemical and radiological associations

Hyperammonemia with complex urinary tract anomaly: a case report

Assessment of stool colour in community management of prolonged jaundice in infancy

Vitreous humour and cerebrospinal fluid hypoxanthine concentration as a marker of pre-mortem hypoxia in SIDS

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress

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