142 results on '"De Lonlay P"'
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2. Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
3. P351 Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort
4. Maladies hépatiques d’origine métabolique
5. Systemic primary carnitine deficiency induces severe arrhythmias due to shortening of the QT interval
6. Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency
7. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia
8. Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
9. Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance
10. Clinical phenotype associated with TANGO2 gene mutation
11. Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
12. Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis
13. Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults
14. Trastornos congénitos de la glucosilación de las glucoproteínas séricas
15. Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency
16. Syndrome myogène et acidose métabolique, penser au déficit multiple en acyl-coenzyme A déshydrogénase
17. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
18. Syndrome myogène et acidose métabolique, penser au déficit multiple en acyl-coenzyme A déshydrogénase
19. METABOLIC MYOPATHIES I
20. Évaluation de la puberté et de la fertilité des patients atteints de galactosémie
21. Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
22. Developmental trajectories of 31 French Creatine Transporter Deficiency (SLC6A8) patients: New insights into outcome measures selection
23. Two new cases of mitochondrial myopathy with exercise intolerance, lactic acidosis and cardiomyopathy, caused by recessive SLC25A4 mutations
24. Quand évoquer une maladie héréditaire du métabolisme devant des troubles de conscience?
25. Two new cases of serine deficiency disorders treated with l-serine
26. CO-48 – Prise en charge néonatale des maladies d'intoxication dérivées du métabolisme protéique
27. Quand évoquer une maladie héréditaire du métabolisme devant des troubles de conscience?
28. Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study
29. Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
30. Pediatric drug formulation of sodium benzoate extended-release granules
31. Intolérance aux protéines dibasiques, éclairage sur une véritable maladie systémique méconnue
32. Maladies métaboliques de l’adulte, ce que le réanimateur doit savoir
33. Syndrome de Barth : le reconnaître, le traiter. Recommandations pour la prise en charge
34. MonoallelicABCC8mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism
35. Aspect en IRM cérébrale des maladies mitochondriales. Algorithme décisionnel des maladies mitochondriales les plus fréquentes
36. SFP PC-31 - Le gène LIPT1 muté cause un Syndrome de Leigh et un déficit en PDH
37. Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations
38. ABSTRACT 817
39. Hyperinsulinaemic Hypoglycaemia
40. Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling
41. Renal transplantation in 4 patients with methylmalonic aciduria: A cell therapy for metabolic disease
42. Anomalie congénitale de la glycosylation des protéines de type 1b et atteinte hépatique
43. Évaluation de la puberté et de la fertilité des patients atteints de galactosémie
44. Déficit en décarboxylase des acides amines aromatiques (AADC) chez dix patients français : particularités phénotypiques
45. Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino‐acid mixture
46. Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique
47. Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations
48. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome
49. 082 Des mutations identifiées dans le syndrome d’hyperinsulinisme congénital soulignent l’importance de GLUT2 dans le pancréas humain.
50. Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : consensus français pour le dépistage, le diagnostic, et la prise en charge
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