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Biochemical and molecular investigations in respiratory chain deficiencies.
Branched-chain organic acidurias.
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.
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
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.
Clinical features of 52 neonates with hyperinsulinism.
- P. de Lonlay-Debeney, F. Poggi-Travert, J. Saudubray
- MedicineNew England Journal of Medicine
- 15 April 1999
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.
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.
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.
Inborn Metabolic Diseases: Diagnosis and Treatment
The clinical approach to Inherited Metabolic Diseases in Adulthood and Newborn Screening for Inborn Errors of Metabolism are studied.
Recognition and management of fatty acid oxidation defects: A series of 107 patients
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.
Urea cycle defects: Management and outcome
- M. Nassogne, B. Héron, G. Touati, D. Rabier, J. Saudubray
- MedicineJournal of Inherited Metabolic Disease
- 1 May 2005
Patients with late-onset forms of urea cycle defects may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities, mostly for ornithine carbamoyltransferase-deficient males.
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
- F. Sedel, N. Baumann, J. Turpin, O. Lyon‐Caen, J. Saudubray, D. Cohen
- Psychology, MedicineJournal of Inherited Metabolic Disease
- 10 August 2007
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.
Inborn Metabolic Diseases
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