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Simon Heales

Showing results (31-40 of 82) with videos related to

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Circulation|April 13, 2005
Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouseManasi Nandi, Alyson Miller, Raymond Stidwill, et al.
Forensic Science, Medicine, and Pathology|January 17, 2012
Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant deathJeremy W Pryce, Martin A Weber, Simon Heales, et al.
Drug Discovery Today|July 18, 2015
Can folic acid have a role in mitochondrial disorders?Aida Ormazabal, Mercedes Casado, Marta Molero-Luis, et al.
Journal of Proteome Research|March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patientsVictoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 25, 2004
L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findingsAndrew H Evans, Durval C Costa, Sveto Gacinovic, et al.
Lancet (London, England)|July 23, 2002
Association between mitochondrial dysfunction and severity and outcome of septic shockDavid Brealey, Michael Brand, Iain Hargreaves, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 27, 2017
Low CSF 5-HIAA in Myoclonus DystoniaKathryn J Peall, Joanne Ng, Marisela E Dy, et al.
Journal of Inherited Metabolic Disease|November 16, 2012
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytesDerek G Burke, Ahad A Rahim, Simon N Waddington, et al.
JIMD Reports|November 20, 2019
The need for biochemical testing in beta-enolase deficiency in the genomic eraRalph Wigley, Renata S Scalco, Alice R Gardiner, et al.
Neurology. Genetics|November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q<sub>10</sub> Biosynthesis DisordersAzizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.
Pageof 9

Showing results (31-40 of 82) with videos related to

Sort By:
Pageof 9
Circulation|April 13, 2005
Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouseManasi Nandi, Alyson Miller, Raymond Stidwill, et al.
Forensic Science, Medicine, and Pathology|January 17, 2012
Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant deathJeremy W Pryce, Martin A Weber, Simon Heales, et al.
Drug Discovery Today|July 18, 2015
Can folic acid have a role in mitochondrial disorders?Aida Ormazabal, Mercedes Casado, Marta Molero-Luis, et al.
Journal of Proteome Research|March 8, 2013
The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patientsVictoria Manwaring, Wendy E Heywood, Robert Clayton, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 25, 2004
L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findingsAndrew H Evans, Durval C Costa, Sveto Gacinovic, et al.
Lancet (London, England)|July 23, 2002
Association between mitochondrial dysfunction and severity and outcome of septic shockDavid Brealey, Michael Brand, Iain Hargreaves, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 27, 2017
Low CSF 5-HIAA in Myoclonus DystoniaKathryn J Peall, Joanne Ng, Marisela E Dy, et al.
Journal of Inherited Metabolic Disease|November 16, 2012
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytesDerek G Burke, Ahad A Rahim, Simon N Waddington, et al.
JIMD Reports|November 20, 2019
The need for biochemical testing in beta-enolase deficiency in the genomic eraRalph Wigley, Renata S Scalco, Alice R Gardiner, et al.
Neurology. Genetics|November 27, 2024
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q<sub>10</sub> Biosynthesis DisordersAzizia Wahedi, Sniya Sudhakar, Amanda Lam, et al.
Pageof 9