Search

Your search keyword '"Mention-Mulliez K"' showing total 19 results

Search Constraints

Start Over You searched for: Author "Mention-Mulliez K" Remove constraint Author: "Mention-Mulliez K"
19 results on '"Mention-Mulliez K"'

Search Results

4. Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

5. A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

6. Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

7. Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

8. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

9. A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.

10. Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.

11. Creatine biosynthesis and transport in health and disease.

12. Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

13. [Propranolol and lactatemia during hypovolemic shock: a case report].

14. Creatine and guanidinoacetate reference values in a French population.

15. Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

16. A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

18. A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

19. Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.

Catalog

Books, media, physical & digital resources