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2. ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

3. Untargeted Metabolomics for Inborn Errors of Metabolism: Development and Evaluation of a Sustainable Reference Material for Correcting Inter-Batch Variability.

4. Turbulent Flow Liquid Chromatography-Tandem Mass Spectrometry Methods for Antiepileptic Drug Quantitation in Serum.

5. Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.

6. Untargeted LC-HRMS metabolomics reveals candidate biomarkers for mucopolysaccharidoses.

7. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

10. Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

12. Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.

13. Progressive Ataxia and Neurologic Regression in RFXANK -Associated Bare Lymphocyte Syndrome.

14. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

15. Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.

16. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

18. Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

19. Consolidation of vitamin A and E methods onto a multiplexing liquid chromatography tandem mass spectrometry platform simplifies laboratory workflow.

20. Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype.

21. Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

22. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

23. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

26. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

28. A Case of Severe Neonatal Hyperammonemia.

31. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

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