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Biochemical and molecular investigations in respiratory chain deficiencies.
TLDR
This paper describes the present strategy for the investigation of respiratory chain disorders in humans and describes biochemical and molecular methods, allowing investigation in both adults and young children. Expand
Branched-chain organic acidurias.
TLDR
These disorders are amenable to treatment by removing toxic compounds and by using special diets and carnitine, and can be diagnosed by identifying acylcarnitine and other organic acid compounds in plasma and urine by gas chromatography mass spectrometry or tandem MS-MS. Expand
Clinical features of 52 neonates with hyperinsulinism.
TLDR
Among neonates with hyperinsulinism, about half may have focal islet-cell hyperplasia that can be treated with partial pancreatectomy, and these neonates can be identified through pancreatic catheterization and intraoperative histologic studies. Expand
Inborn Metabolic Diseases: Diagnosis and Treatment
TLDR
The clinical approach to Inherited Metabolic Diseases in Adulthood and Newborn Screening for Inborn Errors of Metabolism are studied. Expand
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
TLDR
It is demonstrated that timely diagnosis in neurologically asymptomatic patients followed by treatment with l-carnitine and a lysine-restricted diet was the best predictor of good outcome, whereas treatment efficacy was low in patients diagnosed after the onset of neurologic disease. Expand
Recognition and management of fatty acid oxidation defects: A series of 107 patients
TLDR
Clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects, which appear very severe, are described and the long-term prognosis remains uncertain. Expand
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
TLDR
Neonatal hyperinsulinemic hypoglycemia is still a severe disease with an important risk to rapidly develop severe mental retardation and epilepsy, and there was no difference between the diffuse and focal forms ofhyperinsulinism. Expand
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
TLDR
Inborn errors of fatty acid oxidation should be considered in unexplained sudden death or near-miss in infants and in infants with conduction defects or ventricular tachycardia. Expand
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
TLDR
The clinical severity of hyperinsulinism varies mainly with age at onset of hypoglycaemia, which has major consequences in terms of therapeutic outcome and genetic counselling. Expand
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
TLDR
An overview of IEMs potentially revealed by psychiatric problems in adolescence or adulthood is presented and a diagnostic strategy to guide metabolic investigations is provided. Expand
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