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Don’t forget about the pancreas! Useful tips on ultrasound

Ultrasound (Leeds, England), 2013-11, Vol.21 (4), p.214-223

2013

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1350-1360

2014

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Development and validation of Spasticity Index—Amyotrophic Lateral Sclerosis

Acta neurologica Scandinavica, 2018-07, Vol.138 (1), p.47-54

2018

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

American journal of human genetics, 2016-12, Vol.99 (6), p.1325-1337

2016

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Airway mucins promote immunopathology in virus-exacerbated chronic obstructive pulmonary disease

The Journal of clinical investigation, 2022-04, Vol.132 (8), p.1-16

2022

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An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

Analytical chemistry (Washington), 2017-09, Vol.89 (17), p.8892-8900

2017

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T4 The respiratory mycobiome is perturbed during viral infection in COPD and drives type 2 immunopathology and exacerbation severity

Thorax, 2023-11, Vol.78 (Suppl 4), p.A3-A4

2023

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356

2022

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Outgrowth of the Bacterial Airway Microbiome after Rhinovirus Exacerbation of Chronic Obstructive Pulmonary Disease

American journal of respiratory and critical care medicine, 2013-11, Vol.188 (10), p.1224-1231

2013

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Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clinical genetics, 2024-10, Vol.106 (4), p.505-511

2024

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324

2022

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The four self-efficacy trajectories among people with multiple sclerosis: Clinical associations and implications

Journal of the neurological sciences, 2022-05, Vol.436, p.120188-120188, Article 120188

2022

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Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Archives of disease in childhood, 2017-05, Vol.102 (5), p.A152

2017

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Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.253-256

2010

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G388(P) Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Archives of disease in childhood, 2017-05, Vol.102 (Suppl 1), p.A152-A153

2017

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Pyridoxal 5′‐phosphate deficiency causes a loss of aromatic l‐amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l‐amino acid decarboxylase and vitamin B 6 deficiency states

Journal of neurochemistry, 2010-07, Vol.114 (1), p.87-96

2010

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B^sub 6^-Dependent Epilepsy

American journal of human genetics, 2016-12, Vol.99 (6), p.1325

2016

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Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B₆ deficiency states

Journal of neurochemistry, 2010-07, Vol.114 (1), p.87-96

2010

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Intact neurological outcome after neurointerventional treatment for intracranial venous thrombosis with straight sinus involvement

BMJ case reports, 2013-09, Vol.2013, p.bcr2013010242

2013

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

American journal of human genetics, 2016-12, Vol.99 (6), p.1325

2016

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Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states

Journal of neurochemistry, 2010-07, Vol.114 (1), p.87-96

2010

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Carotenaemia

Harper's Textbook of Pediatric Dermatology, 2011, p.171.1-171.6

2011

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Intact neurological outcome after neurointerventional treatment for intracranial venous thrombosis with straight sinus involvement

BMJ Case Reports, 2013, Vol.2013

2013

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Women, Europe and the new languages of politics

Signs, 2006, Vol.31 (2), p.575-578

2006

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Don’t forget about the pancreas! Useful tips on ultrasound

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Development and validation of Spasticity Index—Amyotrophic Lateral Sclerosis

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

Airway mucins promote immunopathology in virus-exacerbated chronic obstructive pulmonary disease

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

T4 The respiratory mycobiome is perturbed during viral infection in COPD and drives type 2 immunopathology and exacerbation severity

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Outgrowth of the Bacterial Airway Microbiome after Rhinovirus Exacerbation of Chronic Obstructive Pulmonary Disease

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

The four self-efficacy trajectories among people with multiple sclerosis: Clinical associations and implications

Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

G388(P) Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Pyridoxal 5′‐phosphate deficiency causes a loss of aromatic l‐amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l‐amino acid decarboxylase and vitamin B 6 deficiency states

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B^sub 6^-Dependent Epilepsy

Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B₆ deficiency states

Intact neurological outcome after neurointerventional treatment for intracranial venous thrombosis with straight sinus involvement

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency states

Carotenaemia

Intact neurological outcome after neurointerventional treatment for intracranial venous thrombosis with straight sinus involvement

Women, Europe and the new languages of politics

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