Works matching AU Heales, Simon

Results: 110

Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8 , 20".

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 8, doi. 10.3390/ijns9010008

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 25, doi. 10.3390/ijns8020025

By:

Burlina, Alberto;
Jones, Simon A.;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Cheillan, David

Publication type:

Article

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 20, doi. 10.3390/ijns8010020

By:

Jones, Simon A.;
Cheillan, David;
Chakrapani, Anupam;
Church, Heather J.;
Heales, Simon;
Wu, Teresa H. Y.;
Morton, Georgina;
Roberts, Patricia;
Sluys, Erica F.;
Burlina, Alberto

Publication type:

Article

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991

By:

Bugiardini, Enrico;
Pope, Simon;
Feichtinger, René G.;
Poole, Olivia V.;
Pittman, Alan M.;
Woodward, Cathy E.;
Heales, Simon;
Quinlivan, Rosaline;
Houlden, Henry;
Mayr, Johannes A.;
Hanna, Michael G.;
Pitceathly, Robert D.S.

Publication type:

Article

Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment.

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 2, p. 36, doi. 10.3390/jcm7020036

By:

Hargreaves, Iain;
Mody, Nimesh;
Land, John;
Heales, Simon

Publication type:

Article

Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.

Published in:

Journal of Clinical Medicine, 2017, v. 6, n. 11, p. 100, doi. 10.3390/jcm6110100

By:

Al Shahrani, Mesfer;
Heales, Simon;
Hargreaves, Iain;
Orford, Michael

Publication type:

Article

Low CSF 5-HIAA in Myoclonus Dystonia.

Published in:

2017

By:

Peall, Kathryn J.;
Ng, Joanne;
Dy, Marisela E.;
Sharma, Nutan;
Pope, Simon;
Heales, Simon;
Friedman, Jennifer R.;
Kurian, Manju A.

Publication type:

Letter

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Published in:

Movement Disorders, 2011, v. 26, n. 5, p. 905, doi. 10.1002/mds.23593

By:

Ling, Helen;
Polke, James M.;
Sweeney, Mary G.;
Haworth, Andrea;
Sandford, Catherine A.;
Heales, Simon J.R.;
Wood, Nicholas W.;
Davis, Mary B.;
Lees, Andrew J.

Publication type:

Article

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review.

Published in:

Movement Disorders, 2010, v. 25, n. 10, p. 1506, doi. 10.1002/mds.23109

By:

Alonso-Canovas, Araceli;
Katschnig, Petra;
Tucci, Arianna;
Carecchio, Miryam;
Wood, Nicholas W.;
Edwards, Mark;
Martínez Castrillo, Juan Carlos;
Burke, Derek;
Heales, Simon;
Bhatia, Kailash P.

Publication type:

Article

L-dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings.

Published in:

Movement Disorders, 2004, v. 19, n. 10, p. 1232, doi. 10.1002/mds.20146

By:

Evans, Andrew H.;
Costa, Durval C.;
Gacinovic, Sveto;
Katzenschlager, Regina;
O'Sullivan, John D.;
Heales, Simon;
Lee, Phillip;
Lees, Andrew J.

Publication type:

Article

Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency.

Published in:

Movement Disorders, 2004, v. 19, n. 10, p. 1248, doi. 10.1002/mds.20158

By:

Heales, Simon;
Crawley, Francesca;
Rudge, Peter

Publication type:

Article

Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis.

Published in:

Movement Disorders, 2002, v. 17, n. 6, p. 1386, doi. 10.1002/mds.10291

By:

Barnett, Michael H.;
Jarman, Paul R.;
Heales, Simon J.R.;
Bhatia, Kailash P.

Publication type:

Article

Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family.

Published in:

Movement Disorders, 2000, v. 15, n. 4, p. 648, doi. 10.1002/1531-8257(200007)15:4<648::AID-MDS1008>3.0.CO;2-T

By:

Jarman, Paul R.;
Bhatia, Kailash P.;
Davie, Charles;
Heales, Simon J. R.;
Turjanski, Nora;
Taylor-Robinson, Simon D.;
Marsden, C. David;
Wood, Nicholas W.

Publication type:

Article

Mitochondrial dysfunction is a key pathological driver of early stage Parkinson's.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01424-6

By:

Toomey, Christina E.;
Heywood, Wendy E.;
Evans, James R.;
Lachica, Joanne;
Pressey, Sarah N.;
Foti, Sandrine C.;
Al Shahrani, Mesfer;
D'Sa, Karishma;
Hargreaves, Iain P.;
Heales, Simon;
Orford, Michael;
Troakes, Claire;
Attems, Johannes;
Gelpi, Ellen;
Palkovits, Miklos;
Lashley, Tammaryn;
Gentleman, Steve M.;
Revesz, Tamas;
Mills, Kevin;
Gandhi, Sonia

Publication type:

Article

PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons.

Published in:

PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002455

By:

Wood-Kaczmar, Alison;
Gandhi, Sonia;
Yao, Zhi;
Abramov, Andrey S. Y.;
Miljan, Erik A.;
Keen, Gregory;
Stanyer, Lee;
Hargreaves, Iain;
Klupsch, Kristina;
Deas, Emma;
Downward, Julian;
Mansfield, Louise;
Jat, Parmjit;
Taylor, Joanne;
Heales, Simon;
Duchen, Michael R.;
Latchman, David;
Tabrizi, Sarah J.;
Wood, Nicholas W.

Publication type:

Article

GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation.

Published in:

Cardiovascular Research, 2002, v. 55, n. 4, p. 838, doi. 10.1016/S0008-6363(02)00460-1

By:

Cai, Shijie;
Alp, Nicholas J;
McDonald, Denise;
Smith, Ian;
Kay, Jonathan;
Canevari, Laura;
Heales, Simon;
Channon, Keith M

Publication type:

Article

Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction.

Published in:

FASEB Journal, 2020, v. 34, n. 6, p. 8139, doi. 10.1096/fj.201902277RR

By:

Ghosh, Rhia;
Wood‐Kaczmar, Alison;
Dobson, Lucianne;
Smith, Edward J.;
Sirinathsinghji, Eva C.;
Kriston‐Vizi, Janos;
Hargreaves, Iain P.;
Heaton, Robert;
Herrmann, Frank;
Abramov, Andrey Y.;
Lam, Amanda J.;
Heales, Simon J.;
Ketteler, Robin;
Bates, Gillian P.;
Andre, Ralph;
Tabrizi, Sarah J.

Publication type:

Article

K. Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy.

Published in:

Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab160

By:

Schoeler, Natasha E.;
Orford, Michael;
Vivekananda, Umesh;
Simpson, Zoe;
Van de Bor, Baheerathi;
Smith, Hannah;
Balestrini, Simona;
Rutherford, Tricia;
Brennan, Erika;
McKenna, James;
Lambert, Bridget;
Barker, Tom;
Jackson, Richard;
Williams, Robin S. B.;
Sisodiy, Sanjay M.;
Eaton, Simon;
Heales, Simon J. R.;
Cross, J. Helen;
Walker, Matthew C.

Publication type:

Article

Establishment of paediatric age-related reference intervals for serum prolactin to aid in the diagnosis of neurometabolic conditions affecting dopamine meta.

Published in:

Annals of Clinical Biochemistry, 2013, v. 50, n. 2, p. 156, doi. 10.1258/acb.2012.012080

By:

Aitkenhead, Helen;
Heales, Simon J

Publication type:

Article

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.

Published in:

2021

By:

Rossignoli, Giada;
Krämer, Karolin;
Lugarà, Eleonora;
Alrashidi, Haya;
Pope, Simon;
Barrigon, Carmen De La Fuente;
Barwick, Katy;
Bisello, Giovanni;
Ng, Joanne;
Counsell, John;
Lignani, Gabriele;
Heales, Simon J R;
Bertoldi, Mariarita;
Barral, Serena;
Kurian, Manju A;
De La Fuente Barrigon, Carmen

Publication type:

journal article

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Published in:

2017

By:

Manole, Andreea;
Jaunmuktane, Zane;
Hargreaves, Iain;
Ludtmann, Marthe H. R.;
Salpietro, Vincenzo;
Bello, Oscar D.;
Pope, Simon;
Pandraud, Amelie;
Horga, Alejandro;
Scalco, Renata S.;
Abi Li;
Ashokkumar, Balasubramaniem;
Lourenc, Charles M.;
Heales, Simon;
Horvath, Rita;
Chinnery, Patrick F.;
Toro, Camilo;
Singleton, Andrew B.;
Jacques, Thomas S.;
Abramov, Andrey Y.

Publication type:

journal article

pH AND BRAIN FUNCTION.

Published in:

Brain: A Journal of Neurology, 1999, v. 122, n. 9, p. 1794, doi. 10.1093/brain/122.9.1794

By:

Heales, Dr Simon

Publication type:

Article

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

Published in:

2009

By:

Kurian, Manju A.;
Juan Zhen;
Shu-Yuan Cheng;
Yan Li;
Mordekar, Santosh R.;
Jardine, Philip;
Morgan, Neil V.;
Meyer, Esther;
Tee, Louise;
Pasha, Shanaz;
Wassmer, Evangeline;
Heales, Simon J. R.;
Gissen, Paul;
Reith, Maarten E. A.;
Maher, Eamonn R.;
Zhen, Juan;
Cheng, Shu-Yuan;
Li, Yan

Publication type:

journal article

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0476-y

By:

Parviainen, Lotta;
Dihanich, Sybille;
Anderson, Greg W.;
Wong, Andrew M.;
Brooks, Helen R.;
Abeti, Rosella;
Rezaie, Payam;
Lalli, Giovanna;
Pope, Simon;
Heales, Simon J.;
Mitchison, Hannah M.;
Williams, Brenda P.;
Cooper, Jonathan D.

Publication type:

Article

Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis.

Published in:

Scientific Reports, 2016, p. 33249, doi. 10.1038/srep33249

By:

Sadeghian, Mona;
Mastrolia, Vincenzo;
Rezaei Haddad, Ali;
Mosley, Angelina;
Mullali, Gizem;
Schiza, Dimitra;
Sajic, Marija;
Hargreaves, Iain;
Heales, Simon;
Duchen, Michael R.;
Smith, Kenneth J.

Publication type:

Article

Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 7, p. 1023, doi. 10.1093/hmg/5.7.1023

By:

Lüdecke, Barbara;
Knappskog, Per M.;
Clayton, Peter T.;
Surtees, Robert A. H.;
Clelland, James D.;
Heales, Simon J. R.;
Brand, Michael P.;
Bartholomé, Klaus;
Flatmark, Torgeir

Publication type:

Article

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05972-1

By:

Baruteau, Julien;
Perocheau, Dany P.;
Hanley, Joanna;
Lorvellec, Maëlle;
Rocha-Ferreira, Eridan;
Karda, Rajvinder;
Ng, Joanne;
Suff, Natalie;
Diaz, Juan Antinao;
Rahim, Ahad A.;
Hughes, Michael P.;
Banushi, Blerida;
Prunty, Helen;
Hristova, Mariya;
Ridout, Deborah A.;
Virasami, Alex;
Heales, Simon;
Howe, Stewen J.;
Buckley, Suzanne M. K.;
Mills, Philippa B.

Publication type:

Article

Astrocytes Protect Against Copper-Catalysed Loss of Extracellular Glutathione.

Published in:

Neurochemical Research, 2008, v. 33, n. 7, p. 1410, doi. 10.1007/s11064-008-9602-3

By:

Pope, Simon;
Milton, Rosemary;
Heales, Simon

Publication type:

Article

Some Observations upon Biochemical Causes of Ataxia and a New Disease Entity Ubiquinone, CoQ<sub>10</sub> Deficiency.

Published in:

Neurochemical Research, 2007, v. 32, n. 4/5, p. 837, doi. 10.1007/s11064-006-9222-8

By:

John Land;
Simon Heales;
Andrew Duncan;
Iain Hargreaves

Publication type:

Article

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Published in:

2017

By:

Wassenberg, Tessa;
Molero-Luis, Marta;
Jeltsch, Kathrin;
Hoffmann, Georg F.;
Assmann, Birgit;
Blau, Nenad;
Garcia-Cazorla, Angeles;
Artuch, Rafael;
Pons, Roser;
Pearson, Toni S.;
Leuzzi, Vincenco;
Mastrangelo, Mario;
Pearl, Phillip L.;
Wang Tso Lee;
Kurian, Manju A.;
Heales, Simon;
Flint, Lisa;
Verbeek, Marcel;
Willemsen, Michèl;
Opladen, Thomas

Publication type:

journal article

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Published in:

2013

By:

Ferdinandusse, Sacha;
Waterham, Hans R.;
Heales, Simon J. R.;
Brown, Garry K.;
Hargreaves, Iain P.;
Taanman, Jan-Willem;
Gunny, Roxana;
Abulhoul, Lara;
Wanders, Ronald J. A.;
Clayton, Peter T.;
Leonard, James V.;
Rahman, Shamima

Publication type:

journal article

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.

Published in:

Annals of Neurology, 2012, v. 72, n. 3, p. 455, doi. 10.1002/ana.23614

By:

Gegg, Matthew E.;
Burke, Derek;
Heales, Simon J. R.;
Cooper, J. Mark;
Hardy, John;
Wood, Nicholas W.;
Schapira, Anthony H. V.

Publication type:

Article

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1186, doi. 10.1002/jimd.12295

By:

Leung, Kit‐Yi;
De Castro, Sandra C. P.;
Santos, Chloe;
Savery, Dawn;
Prunty, Helen;
Gold‐Diaz, Diana;
Bennett, Stuart;
Heales, Simon;
Copp, Andrew J.;
Greene, Nicholas D. E.

Publication type:

Article

Cerebral folate deficiency: Analytical tests and differential diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 655, doi. 10.1002/jimd.12092

By:

Pope, Simon;
Artuch, Rafael;
Heales, Simon;
Rahman, Shamima

Publication type:

Article

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 415, doi. 10.1007/s10545-016-9930-4

By:

Kanabus, Marta;
Fassone, Elisa;
Hughes, Sean;
Bilooei, Sara;
Rutherford, Tricia;
Donnell, Maura;
Heales, Simon;
Rahman, Shamima

Publication type:

Article

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

Published in:

2016

By:

Bowron, Ann;
Honeychurch, Julie;
Williams, Maggie;
Tsai-Goodman, Beverley;
Clayton, Nicol;
Jones, Lucy;
Shortland, Graham;
Qureshi, Shakeel;
Heales, Simon;
Steward, Colin

Publication type:

Erratum

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 279, doi. 10.1007/s10545-014-9747-y

By:

Bowron, Ann;
Honeychurch, Julie;
Williams, Maggie;
Tsai-Goodman, Beverley;
Clayton, Nicol;
Jones, Lucy;
Shortland, Graham;
Qureshi, Shakeel;
Heales, Simon;
Steward, Colin

Publication type:

Article

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 211, doi. 10.1007/s10545-015-9813-0

By:

Kanabus, Marta;
Shahni, Rojeen;
Saldanha, José;
Murphy, Elaine;
Plagnol, Vincent;
Hoff, William;
Heales, Simon;
Rahman, Shamima

Publication type:

Article

Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Published in:

2013

By:

Burke, Derek;
Rahim, Ahad;
Waddington, Simon;
Karlsson, Stefan;
Enquist, Ida;
Bhatia, Kailash;
Mehta, Atul;
Vellodi, Ashok;
Heales, Simon

Publication type:

Correction Notice

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 741, doi. 10.1007/s10545-012-9552-4

By:

Bowron, Ann;
Frost, Robert;
Powers, Vicki;
Thomas, Paul;
Heales, Simon;
Steward, Colin

Publication type:

Article

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 869, doi. 10.1007/s10545-012-9561-3

By:

Burke, Derek;
Rahim, Ahad;
Waddington, Simon;
Karlsson, Stefan;
Enquist, Ida;
Bhatia, Kailash;
Mehta, Atul;
Vellodi, Ashok;
Heales, Simon

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 139, doi. 10.1007/s10545-012-9493-y

By:

Footitt, Emma;
Clayton, Peter;
Mills, Kevin;
Heales, Simon;
Neergheen, Viruna;
Oppenheim, Marcus;
Mills, Philippa

Publication type:

Article

Human neuronal coenzyme Q deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 63, doi. 10.1007/s10545-012-9511-0

By:

Duberley, Kate;
Abramov, Andrey;
Chalasani, Annapurna;
Heales, Simon;
Rahman, Shamima;
Hargreaves, Iain

Publication type:

Article

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 311, doi. 10.1007/s10545-011-9360-2

By:

Manwaring, Victoria;
Prunty, Helen;
Bainbridge, Katie;
Burke, Derek;
Finnegan, Niamh;
Franses, Rebecca;
Lam, Amanda;
Vellodi, Ashok;
Heales, Simon

Publication type:

Article

Erratum to: Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Published in:

2012

By:

Manwaring, Victoria;
Prunty, Helen;
Bainbridge, Katie;
Burke, Derek;
Finnegan, Niamh;
Franses, Rebecca;
Lam, Amanda;
Vellodi, Ashok;
Heales, Simon

Publication type:

Correction Notice

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

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 529, doi. 10.1007/s10545-011-9279-7

By:

Footitt, Emma;
Heales, Simon;
Mills, Philippa;
Allen, George;
Oppenheim, Marcus;
Clayton, Peter

Publication type:

Article

Cerebral folate deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 563, doi. 10.1007/s10545-010-9159-6

By:

Hyland, Keith;
Shoffner, John;
Heales, Simon

Publication type:

Article

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 124, doi. 10.1002/jmd2.12413

By:

Hirachan, Rohit;
Horman, Alistair;
Burke, Derek;
Heales, Simon

Publication type:

Article

Earwax: A potentially useful medium to identify inborn errors of metabolism?

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 72, doi. 10.1002/jmd2.12102

By:

Krywawych, Stefan;
Cleary, Maureen;
McSweeney, Mel;
Heales, Simon

Publication type:

Article