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Journal of Inherited Metabolic Disease
|
October 31, 2012
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis
Ann Bowron, Robert Frost, Vicki E C Powers, et al.
Child Neurology Open
|
July 21, 2023
Broadening the Spectrum of <i>SLC22A5</i> Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
Maymunah Khries, Albert Lim, Dipayan Mitra, et al.
British Journal of Cancer
|
March 24, 2020
Correction: A case of malignant hyperlactaemic acidosis appearing upon treatment with the mono-carboxylase transporter 1 inhibitor AZD3965
Rosie McNeillis, Alastair Greystoke, Jon Walton, et al.
British Journal of Cancer
|
February 21, 2020
A case of malignant hyperlactaemic acidosis appearing upon treatment with the mono-carboxylase transporter 1 inhibitor AZD3965
Rosie McNeillis, Alastair Greystoke, Jon Walton, et al.
Journal of Inherited Metabolic Disease
|
September 17, 2015
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
Ann Bowron, Julie Honeychurch, Maggie Williams, et al.
Journal of Inherited Metabolic Disease
|
August 13, 2014
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
Ann Bowron, Julie Honeychurch, Maggie Williams, et al.
American Journal of Medical Genetics. Part A
|
April 12, 2026
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients
Siew Li Ting, John Bassett, Jonathan Meyer, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Nathan W P Cantley, Robert Barski, Helena Kemp, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Orphanet Journal of Rare Diseases
|
February 13, 2013
Barth syndrome
Sarah L N Clarke, Ann Bowron, Iris L Gonzalez, et al.
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of 2
Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
Journal of Inherited Metabolic Disease
|
October 31, 2012
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis
Ann Bowron, Robert Frost, Vicki E C Powers, et al.
Child Neurology Open
|
July 21, 2023
Broadening the Spectrum of <i>SLC22A5</i> Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
Maymunah Khries, Albert Lim, Dipayan Mitra, et al.
British Journal of Cancer
|
March 24, 2020
Correction: A case of malignant hyperlactaemic acidosis appearing upon treatment with the mono-carboxylase transporter 1 inhibitor AZD3965
Rosie McNeillis, Alastair Greystoke, Jon Walton, et al.
British Journal of Cancer
|
February 21, 2020
A case of malignant hyperlactaemic acidosis appearing upon treatment with the mono-carboxylase transporter 1 inhibitor AZD3965
Rosie McNeillis, Alastair Greystoke, Jon Walton, et al.
Journal of Inherited Metabolic Disease
|
September 17, 2015
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
Ann Bowron, Julie Honeychurch, Maggie Williams, et al.
Journal of Inherited Metabolic Disease
|
August 13, 2014
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
Ann Bowron, Julie Honeychurch, Maggie Williams, et al.
American Journal of Medical Genetics. Part A
|
April 12, 2026
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients
Siew Li Ting, John Bassett, Jonathan Meyer, et al.
International Journal of Neonatal Screening
|
January 22, 2024
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Nathan W P Cantley, Robert Barski, Helena Kemp, et al.
Archives of Disease in Childhood
|
March 11, 2025
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks
Shona Lc Brothwell, Patricia E Fitzsimons, Adam Gerrard, et al.
Orphanet Journal of Rare Diseases
|
February 13, 2013
Barth syndrome
Sarah L N Clarke, Ann Bowron, Iris L Gonzalez, et al.
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of 2