P. Mills

发表

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

J. Dopazo, F. García-García, S. Beltran, 2017, Human mutation.

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

N. Callewaert, M. Krieger, W. Annaert, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

H. Zetterberg, W. Heywood, K. Mills, 2021, F1000Research.

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

H. Zetterberg, W. Heywood, K. Mills, 2022, F1000Research.

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

P. Striano, N. Longo, C. V. van Karnebeek, 2020, Journal of inherited metabolic disease.

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

H. Nittono, P. Clayton, F. Mochel, 2014, Journal of Inherited Metabolic Disease.

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease

P. Clayton, S. Gospe, P. Mills, 2014 .

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

R. Wevers, S. Gospe, P. Clayton, 2012, American journal of human genetics.

MAN 1 B 1 Deficiency : An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2014 .

MAN1B1 Deficiency: An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2013, PLoS genetics.

Analysis by matrix assisted laser desorption/ ionisation‐time of flight mass spectrometry of the post‐translational modifications of α1‐antitrypsin isoforms separated by two‐ dimensional polyacrylamide gel electrophoresis

K. Mills, P. Clayton, B. Winchester, 2001, Proteomics.

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.

K. Mills, P. Clayton, A. Johnson, 2001, The Biochemical journal.

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

W. Heywood, K. Mills, P. Clayton, 2013, Journal of proteome research.

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine‐dependent epilepsy and pyridoxine phosphate oxidase deficiency

M. Baumgartner, P. Clayton, C. Jakobs, 2010, Developmental medicine and child neurology.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

A. Rahim, J. Ng, P. Gissen, 2018, bioRxiv.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

A. Rahim, J. Ng, P. Gissen, 2018, Nature Communications.

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

A. Burroughs, M. Stamelou, K. Bhatia, 2012, Movement disorders : official journal of the Movement Disorder Society.

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

M. Bitner-Glindzicz, P. Clayton, P. Mills, 2008, Journal of Inherited Metabolic Disease.

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

P. Clayton, S. Heales, P. Mills, 2011, Journal of Inherited Metabolic Disease.

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination

H. Mefford, S. Gospe, P. Clayton, 2015, Neurology.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

N. Marlow, W. Craigen, K. Mills, 2010, Brain : a journal of neurology.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH 7 A 1 deficiency )

N. Marlow, W. Craigen, K. Mills, 2010 .

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

P. Scambler, R. Surtees, P. Clayton, 2005, Human molecular genetics.

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method

K. Mills, P. Clayton, S. Heales, 2013, Journal of Inherited Metabolic Disease.

P. Gissen, A. Chakrapani, S. Waddington, 2019, Metabolites.

Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease

W. Heywood, K. Mills, D. Warnock, 2019, Journal of Medical Genetics.

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

P. Clayton, P. Mills, Elisa Oppici, 2015, Human molecular genetics.

Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism

P. Clayton, P. Gissen, P. Mills, 2012, Journal of Inherited Metabolic Disease.

mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria

M. Ryten, L. Rice, P. Finn, 2022, bioRxiv.

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

B. Wirth, R. Boostani, R. Maroofian, 2020, Neuromuscular Disorders.

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy

V. Bunik, P. Clayton, A. Tramonti, 2021, International journal of molecular sciences.

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy

P. Clayton, C. Tuleu, P. Mills, 2017, The Journal of pharmacy and pharmacology.

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

G. Mitchell, P. Clayton, E. Rossignol, 2015, JIMD reports.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

M. Baumgartner, H. Omran, B. Weschke, 2006, Nature Medicine.

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

H. Williams, S. Boyd, C. Bacchelli, 2015, JIMD reports.

Pyridoxine responsiveness in novel mutations of the PNPO gene

P. Clayton, B. Plecko, M. Connolly, 2014, Neurology.

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

M. Baumgartner, K. Mills, C. Morel, 2014, Brain : a journal of neurology.

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.

C. V. van Karnebeek, S. Gospe, B. Plecko, 2014, JIMD reports.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

P. Clayton, G. Schwarz, D. Martinelli, 2022, Redox biology.

Disorders affecting vitamin B6 metabolism

P. Clayton, B. Plecko, P. Mills, 2019, Journal of inherited metabolic disease.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

P. Waters, P. Clayton, C. Jakobs, 2012, Journal of Inherited Metabolic Disease.

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

P. Clayton, M. Willemsen, L. Bok, 2007, Annals of neurology.

Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy

M. Baumgartner, P. Clayton, J. Zschocke, 2007, Journal of Inherited Metabolic Disease.

Inborn errors affecting vitamin B6 metabolism

R. Surtees, P. Clayton, P. Mills, 2006 .

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

H. Williams, Malika Benatti, S. Holden, 2017, Journal of Inherited Metabolic 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

K. Mills, P. Clayton, S. Heales, 2017, Analytical chemistry.

A preterm neonate with seizures unresponsive to conventional treatment

P. Clayton, F. Raimondi, E. Del Giudice, 2015, BMJ Case Reports.

Manganese and the brain.

P. Clayton, P. Mills, K. Tuschl, 2013, International review of neurobiology.

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx

K. Mills, P. Clayton, B. Winchester, 2003, Journal of Inherited Metabolic Disease.

TRNT1 deficiency: clinical, biochemical and molecular genetic features

M. Minczuk, V. Plagnol, J. Saldanha, 2016, Orphanet Journal of Rare Diseases.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans

Kevin Bryson, Alberto Pessia, Vidya Velagapudi, 2017, Cell.

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

V. de Crécy-Lagard, P. Clayton, V. Crécy-Lagard, 2016, American journal of human genetics.

Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders

W. Heywood, K. Mills, M. Kurian, 2022, Developmental medicine and child neurology.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

K. Mills, P. Clayton, N. Mano, 2016, FEBS letters.

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

F. Muntoni, N. Sebire, E. Bliss, 2016, Molecular genetics and metabolism reports.

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

W. Heywood, K. Mills, P. Gissen, 2020, iScience.

Diagnosis of congenital disorders of glycosylation type‐I using protein chip technology

K. Mills, J. Langridge, P. Clayton, 2006, Proteomics.

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

K. Mills, P. Clayton, M. Jackson, 2005, Journal of Inherited Metabolic Disease.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

R. Lachmann, A. Broomfield, E. Jameson, 2017, Journal of Inherited Metabolic Disease.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Stephen W. Wilson, V. Tiranti, J. Rihel, 2016, Nature Communications.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

M. Krieger, W. Annaert, G. Matthijs, 2007, Human molecular genetics.

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders

N. Brunetti‐Pierri, A. Motta, S. Eaton, 2020, EMBO molecular medicine.

Identification of α1-Antitrypsin Variants in Plasma with the Use of Proteomic Technology

K. Mills, P. Clayton, B. Winchester, 2001 .

PDXK mutations cause polyneuropathy responsive to PLP supplementation

Henrik, Houlden, J. Rothman, 2019 .

RARS2 mutations in a sibship with infantile spasms

R. Guerreiro, R. Thornton, J. Bras, 2016, Epilepsia.

Phenotypic variability in a dystonia family with mutations in the manganese transporter gene

B. P. Warrenburg, R. Wevers, P. Clayton, 2013, Movement disorders : official journal of the Movement Disorder Society.

Disorders of Manganese Metabolism

P. Clayton, P. Mills, K. Tuschl, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

T. Jacques, N. Wood, H. Houlden, 2014, Neurology.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

R. Wevers, S. Gospe, P. Clayton, 2016, American journal of human genetics.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

E. Pai, R. Rodenburg, T. Yuzyuk, 2017, Journal of Inherited Metabolic Disease.

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses

W. Heywood, K. Mills, P. Gissen, 2020, Journal of inherited metabolic disease.

Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity

P. Clayton, P. Mills, 2018 .

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

B. Plecko, L. Bok, P. Mills, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

A. Rahim, J. Ng, P. Gissen, 2018, bioRxiv.

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

K. Mills, P. Clayton, B. Winchester, 2003, Glycobiology.

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology.

K. Mills, P. Clayton, A. Johnson, 2001, Clinical chemistry.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

J. Rothman, D. Kullmann, D. Timmann, 2019, Annals of neurology.

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation

J. Rothman, M. Ryten, C. Cordivari, 2019 .

New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases

W. Heywood, K. Mills, P. Clayton, 2023, International journal of molecular sciences.