1,051 results on '"de Lonlay, Pascale"'
Search Results
2. Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
3. Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
4. Citrulline in the management of patients with urea cycle disorders
5. Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study
6. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients
7. Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
8. Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
9. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
10. Congenital Hyperinsulinism Hyperinsulinism Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance Insulin Resistance Genetic Disorders of Insulin Resistance and Signalling Insulin Signalling
11. Congenital Hyperinsulinism
12. Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings
13. Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 )
14. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
15. Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
16. Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice
17. Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
18. Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.
19. Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling
20. TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning
21. Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis
22. Complement activation is a crucial driver of acute kidney injury in rhabdomyolysis
23. PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
24. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
25. Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet
26. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
27. Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
28. Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
29. Long-term renal outcome in methylmalonic acidemia in adolescents and adults
30. Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
31. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
32. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
33. Congenital disorders of glycosylation (CDG): Quo vadis?
34. Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy.
35. Individual and Family Determinants for Quality of Life in Parents of Children With Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach
36. Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
37. Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
38. Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles
39. Congenital Hyperinsulinism
40. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions
41. 5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy
42. Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under l-DOPA, 5-HTP and BH4 Trials
43. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
44. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
45. Abnormal autophagy is a critical mechanism in TANGO2-related rhabdomyolysis
46. Successful treatment of severe MSUD in Bckdhb‐/‐mice with neonatal AAV gene therapy
47. Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy
48. Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients
49. Additional file 2 of Citrulline in the management of patients with urea cycle disorders
50. Additional file 4 of Citrulline in the management of patients with urea cycle disorders
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