• Publications
  • Influence
Clinical features of 52 neonates with hyperinsulinism.
BACKGROUND Neonatal hyperinsulinemic hypoglycemia is often resistant to medical therapy and is often treated with near-total pancreatectomy. However, the pancreatic lesions may be focal and treatableExpand
  • 283
  • 15
Recognition and management of fatty acid oxidation defects: A series of 107 patients
In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disordersExpand
  • 287
  • 13
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
Sporadic persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or nesidioblastosis is a heterogeneous disorder characterized by profound hypoglycemia due to inappropriate hypersecretion ofExpand
  • 261
  • 3
  • PDF
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation
SummaryA number of acquired conditions including infections, severe catabolic states, tissue anoxia, severe dehydration and poisoning can give rise to hyperlactacidaemia. All these causes should beExpand
  • 26
  • 3
Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency
Ammonia is channelled into the urea cycle by means of carbamoyl-phosphate synthetase (CPS I). This initial step of urea synthesis takes place in the mitochondria of the liver cell and is catalysed byExpand
  • 24
  • 1
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria
Abstract Primary persistent hyperinsulinaemic hypoglycaemia of infancy is rare. Diazoxide treatment remains the mainstay of medical therapy in long-term management. We reviewed 77 cases of primaryExpand
  • 83
Liver transplantation in two cases of propionic acidaemia
SummaryOrthotopic liver transplantation (OLT) was performed in two patients with propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagnosed with a severe neonatal form with high risk ofExpand
  • 30
Clinical approach to inherited peroxisomal disorders
SummaryAt least 21 genetic disorders have now been found that are linked to peroxisomal dysfunction. Whatever the genetic defect might be, peroxisomal disorders should be considered in variousExpand
  • 25
...
1
2
...