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Olpin, Simon
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1

Thermo‐sensitive mitochondrial trifunctional protein defici..:

Schwantje, Marit ; Ebberink, Merel S. ; Doolaard, Mirjam...
Journal of Inherited Metabolic Disease.  45 (2022)  4 - p. 819-831 , 2022
Link: https://doi.org/10.1002/..
 
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2

Novel mutations associated with carnitine-acylcarnitine tra..:

Habib, Anasufiza ; Azize, Nor Azimah Abdul ; Rahman, Salina Abd...
Clinical Biochemistry.  98 (2021)  - p. 48-53 , 2021
Link: https://doi.org/10.1016/..
 
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3

Biochemical assessment of patients following ketogenic diet..:

Schoeler, Natasha E. ; Simpson, Zoe ; Whiteley, Victoria J....
Epilepsia Open.  5 (2019)  1 - p. 73-79 , 2019
Link: https://doi.org/10.1002/..
 
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4

Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk i..:

Olpin, Simon ; Clark, Shirley ; Dalley, Jane...
International Journal of Neonatal Screening.  3 (2017)  1 - p. 2 , 2017
Link: https://doi.org/10.3390/..
 
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5

Gene expression signatures in motor neurone disease fibrobl..:

Raman, Rohini ; Allen, Scott P ; Goodall, Emily F...
Neuropathology and Applied Neurobiology.  41 (2015)  2 - p. 201-226 , 2015
Link: https://doi.org/10.1111/..
 
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6

Mitochondrial trifunctional protein deficiency in human cul..:

Djouadi, Fatima ; Habarou, Florence ; Le Bachelier, Carole...
Journal of Inherited Metabolic Disease.  39 (2015)  1 - p. 47-58 , 2015
Link: https://doi.org/10.1007/..
 
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7

Transient 5-oxoprolinuria: unusually high anion gap acidosi..:

Hulley, Sarah L. ; Perring, Jeff ; Manning, Nigel..
European Journal of Pediatrics.  174 (2015)  12 - p. 1685-1688 , 2015
Link: https://doi.org/10.1007/..
 
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8

Peroxisomal disorders:

Scott, Camilla ; Olpin, Simon
Paediatrics and Child Health.  25 (2015)  3 - p. 119-122 , 2015
Link: https://doi.org/10.1016/..
 
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9

Treatable childhood neuronopathy caused by mutations in rib..:

Foley, A. Reghan ; Menezes, Manoj P. ; Pandraud, Amelie...
Brain.  137 (2013)  1 - p. 44-56 , 2013
Link: https://doi.org/10.1093/..
 
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10

MCAD deficiency in Denmark:

Andresen, Brage Storstein ; Lund, Allan Meldgaard ; Hougaard, David Michael...
Molecular Genetics and Metabolism.  106 (2012)  2 - p. 175-188 , 2012
Link: https://doi.org/10.1016/..
 
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11

Peroxisomal disorders:

Scott, Camilla ; Olpin, Simon
Paediatrics and Child Health.  21 (2011)  2 - p. 71-75 , 2011
Link: https://doi.org/10.1016/..
 
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12

Hypertrophic pyloric stenosis: predicting the resolution of..:

Wilkinson, David J. ; Chapman, Richard A. ; Owen, Anthony..
Pediatric Surgery International.  27 (2011)  7 - p. 695-698 , 2011
Link: https://doi.org/10.1007/..
 
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13

Investigation and Functional Characterization of Rare Genet..:

Coassin, Stefan ; Schweiger, Martina ; Kloss-Brandstätter, Anita...
PLoS Genetics.  6 (2010)  12 - p. e1001239 , 2010
Link: https://doi.org/10.1371/..
 
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14

Dysregulation of hypoxia pathways in fumarate hydratase-def..:

O'Flaherty, Linda ; Adam, Julie ; Heather, Lisa C....
Human Molecular Genetics.  19 (2010)  19 - p. 3844-3851 , 2010
Link: https://doi.org/10.1093/..
 
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15

Failure to repair the c.338C>T mutation in carnitine palmit..:

Afifi, Amal ; Olpin, Simon ; Dalton, Ann..
Molecular Genetics and Metabolism.  93 (2008)  3 - p. 347-349 , 2008
Link: https://doi.org/10.1016/..
 
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