30 results on '"Pierre, Germaine"'
Search Results
2. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
3. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study
4. Left ventricular noncompaction cardiomyopathy and short QT syndrome due to primary carnitine deficiency
5. Think hyperammonaemia: the importance of early clinical management in urea cycle disorders
6. Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study
7. Clinical presentation and natural history of Barth Syndrome: An overview
8. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
9. Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK
10. Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion
11. A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
12. Clinical presentation and proteomic signature of patients with TANGO2 mutations
13. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
14. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function
15. Liver transplantation for neonatal-onset citrullinemia
16. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
17. P37 A single paediatric centre experience of l-carnitine supplementation in medium-chain acyl-coa dehydrogenase deficiency (mcadd)
18. Metabolic disorders presenting as liver disease
19. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
20. Early fragility fractures in Zellweger syndrome spectrum - peroxisome dysfunction affecting osteogenesis?
21. Nemaline myopathy and secondary mitochondrial dysfunction of complex I
22. Combined therapeutic approach to protein losing enteropathy complicating type 3 Gaucher disease using eliglustat
23. An Unusual Cause of Progressive Ataxia and Devastating Seizure Disorder (S20.003)
24. Fucosidosis: the UK experience reflecting the natural history of this rare disorder
25. Metabolic disorders presenting as liver disease
26. New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
27. I-cell disease: The experience of six centres
28. Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy
29. Bone Marrow Transplantation in Glycogen Storage Disease Type 1b
30. Successful treatment of pyridoxine‐unresponsive homocystinuria with betaine in pregnancy
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