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- 2024
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Mark
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
(
- Contribution to journal › Article
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Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
(
- Contribution to journal › Scientific review
- 2023
-
Mark
Early onset ataxia with comorbid myoclonus and epilepsy : A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
(
- Contribution to journal › Article
- 2016
-
Mark
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency : A perinatal protocol for use before population neonatal screening test results become available
(
- Contribution to journal › Letter
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Mark
Inborn Errors of Metabolism That Cause Sudden Infant Death : A Systematic Review with Implications for Population Neonatal Screening Programmes
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- Contribution to journal › Scientific review
- 2014
-
Mark
Rare inborn errors of metabolism with movement disorders : a case study to evaluate the impact upon quality of life and adaptive functioning
(
- Contribution to journal › Article
- 2012
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Mark
The proline/citrulline ratio as a biomarker for OAT deficiency in early infancy
(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2011
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Mark
Intracranial bleeding due to vitamin K deficiency : Advantages of using a pediatric intensive care registry
(
- Contribution to journal › Article
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Mark
Metabolic profiles in children during fasting
(
- Contribution to journal › Article
- 2010
-
Mark
Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
(
- Contribution to journal › Article