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Heales, Simon J.
316  Ergebnisse:
Personensuche X
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1

Fabry disease Enzyme Enhancement on migalastat Study: FEES:

Kugan, Mathura ; D'Amore, Simona ; Mitra-Royhurst, Udita...
Clinica Chimica Acta.  561 (2024)  - p. 119843 , 2024
Link: https://doi.org/10.1016/..
 
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2

Evaluation, in a highly specialised enzyme laboratory, of a..:

Hirachan, Rohit ; Horman, Alistair ; Burke, Derek.
JIMD Reports.  65 (2024)  2 - p. 124-131 , 2024
Link: https://doi.org/10.1002/..
 
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3

Changes in enzymatic activity of alpha galactosidase A in p..:

Kugan, Mathura ; D'Amore, Simona ; Burke, Derek G....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107922 , 2024
Link: https://doi.org/10.1016/..
 
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4

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calc..:

Knöpfel, Nicole ; Zecchin, Davide ; Richardson, Hanna...
Journal of Investigative Dermatology.  144 (2024)  4 - p. 820-832.e9 , 2024
Link: https://doi.org/10.1016/..
 
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5

Impaired GBA1 or mitochondrial complex I activity leads to ..:

Heales, Simon ; Eaton, Simon ; Alrashidi, Haya
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107142 , 2023
Link: https://doi.org/10.1016/..
 
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6

A pilot study of alternative substrates in the critically I..:

McNelly, Angela ; Langan, Anne ; Bear, Danielle E....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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7

Reply to Maase et al. Comment on "Jones et al. Application ..:

Jones, Simon A. ; Cheillan, David ; Chakrapani, Anupam...
International Journal of Neonatal Screening.  9 (2023)  1 - p. 8 , 2023
Link: https://doi.org/10.3390/..
 
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8

Protein aggregation and calcium dysregulation are hallmarks..:

Virdi, Gurvir S. ; Choi, Minee L. ; Evans, James R....
npj Parkinson's Disease.  8 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

Operation Moonshot: rapid translation of a SARS-CoV-2 targe..:

Hällqvist, Jenny ; Lane, Dan ; Shapanis, Andrew...
Clinical Chemistry and Laboratory Medicine (CCLM).  61 (2022)  2 - p. 302-310 , 2022
Link: https://doi.org/10.1515/..
 
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10

A New Approach to Objectively Evaluate Inherited Metabolic ..:

Burlina, Alberto ; Jones, Simon A. ; Chakrapani, Anupam...
International Journal of Neonatal Screening.  8 (2022)  2 - p. 25 , 2022
Link: https://doi.org/10.3390/..
 
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11

Application of a Novel Algorithm for Expanding Newborn Scre..:

Jones, Simon A. ; Cheillan, David ; Chakrapani, Anupam...
International Journal of Neonatal Screening.  8 (2022)  1 - p. 20 , 2022
Link: https://doi.org/10.3390/..
 
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12

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isol..:

Schreglmann, Sebastian R. ; Burke, Derek ; Batla, Amit...
Movement Disorders.  37 (2022)  4 - p. 875-877 , 2022
Link: https://doi.org/10.1002/..
 
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13

Mitochondrial dysfunction is a key pathological driver of e..:

Toomey, Christina E. ; Heywood, Wendy E. ; Evans, James R....
Acta Neuropathologica Communications.  10 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Special Issue in Honour of Professor Juan Bolanos:

Heales, Simon
Neurochemical Research.  46 (2021)  1 - p. 1-2 , 2021
Link: https://doi.org/10.1007/..
 
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15

Protective effects of medium chain triglyceride diet in a m..:

Jancovski, Nikola ; Baldwin, Tomas ; Orford, Michael...
Epilepsia.  62 (2021)  12 - p. 3131-3142 , 2021
Link: https://doi.org/10.1111/..
 
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