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R. Dumoulin

Observed names: Dumoulin R, R Dumoulin, Renée Dumoulin
OpenAlex ID: A5113574377
A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance
1996 · R. Dumoulin, I. Sagnol, et al. · Molecular and Cellular Probes · 102
Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion
1993 · C. Tranchant, B. Mousson, et al. · Neuromuscular Disorders · 49
2‐Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case
1993 · N. Guffon, C. Lopez‐Mediavilla, et al. · Journal of Inherited Metabolic Disease · 46
Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia
1993 · C. Vianey-Saban, B. Mousson, et al. · European Journal of Pediatrics · 40
An abnormal exercise test response revealing a respiratory chain complex III deficiency
2009 · B. Mousson, J. M. Collombet, et al. · Acta Neurologica Scandinavica · 22
Fine mapping of randomly distributed multiple deletions of mitochondrial DNA in a case of chronic progressive external ophthalmoplegia
1995 · T. Ville-Ferlin, R. Dumoulin, et al. · Molecular and Cellular Probes · 11
Antenatal expression of multiple acyl‐CoA dehydrogenase deficiency
2000 · C. Vianey‐Saban, R. Bouvier, et al. · Journal of Inherited Metabolic Disease · 8
Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies
1996 · J.-M. Collombet, G. Mandon, et al. · Molecular and General Genetics MGG · 8
Molecular histology of mitochondrial and nuclear transcripts in the muscle of patients harbouring a single mitochondrial DNA deletion
1995 · H. Carrier, Brigitte Burt-Pichat, et al. · Acta Neuropathologica · 7
Human cultured myoblasts: A model for the diagnosis of mitochondrial diseases
1993 · R. Dumoulin, G. Mandon, et al. · Journal of Inherited Metabolic Disease · 6
[Value of skin fibroblasts in culture for the diagnosis of mitochondrial cell dysfunction. Apropos of 5 cases with cytochrome c oxidase deficiency].
1993 · J M Collombet, M T Zabot, et al. · PubMed · 6
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
1993 · I. Maire, S. Epelbaum, et al. · Journal of Inherited Metabolic Disease · 5
A new case of prenatal diagnosis of isovaleric acidaemia
1991 · R. Dumoulin, P. Divry, et al. · Prenatal Diagnosis · 2
[Cysteamine in the treatment of cystinosis in children. In vitro and in vivo studies].
1984 · J J Louis, P Guibaud, et al. · PubMed · 1
Atteinte cardiaque bimodale au cours d’une scléromyosite avec anticorps anti-Ku
2017 · A.V. Tortat, R. Dumoulin, et al. · La Revue de Médecine Interne
La cystéamine dans le traitement de la cystinose infantile. Etudes in vitro et in vivo.
1984 · J. Louis, P Guibaud, et al.
[Treatment of cystinosis with cysteamine].
1983 · J J Louis, P Guibaud, et al. · PubMed
Works count: 18
Citation count: 313
H-index: 8
I10-index: 6
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