N. Kadhom

Hôpital Necker-Enfants Malades — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

5h-index850citations13works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(5), Amino Acid Enzymes and Metabolism(4), Osteoarthritis Treatment and Mechanisms(2), Mitochondrial Function and Pathology(2), Glycosylation and Glycoproteins Research(2)

Publications13 total

Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
UCL Discovery (University College London)·2001· 3 cited
Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
The American Journal of Human Genetics·2001· 260 citedOpen Access
Caractérisation enzymatique et moléculaire d'un déficit en α-cétoglutarate déshydrogénase chez trois frères porteurs d'une encépahalopathie évolutive
Archives de Pédiatrie·1997
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships
Biochemical Journal·1995· 32 citedOpen Access
Low Efficiency of [14C] Galactose Incorporation by Galactosemic Skin Fibroblasts: Relationship with Neurological Sequelae
Biochemical Medicine and Metabolic Biology·1994· 2 cited
Periodic fluctuations in proliferation of SV-40 transformed human skin fibroblast lines with prolonged lifespan
Cell Biology and Toxicology·1994· 12 cited
Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads
Experimental Cell Research·1994· 521 cited
Fructose-induced enhanced mitogenicity of diploid human cells: Possible relationship with cell differentiation
In Vitro Cellular & Developmental Biology - Animal·1994· 3 cited
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late‐onset clinical symptoms
Journal of Inherited Metabolic Disease·1992· 1 cited
Glutamine dependency of human skin fibroblasts: Modulation by hexoses
Experimental Cell Research·1989· 13 cited
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency
Biochemical Genetics·1989· 2 cited
Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency
Biochemical Genetics·1989
[Metabolic cooperation in cocultures of fibroblasts from patients with various abnormalities of galactose metabolism].
PubMed·1989· 1 cited

Frequent Co-authors

M Gautier(8), C. Wolfrom(5), Joyce Baptista(4), M. Brivet(4), Pierre Rustin(3), Arnold Münnich(3), Agnès Rötig(3), Nicole Raynaud(3), Alban Le Monnier(3), Jacky Bonaventure(2), L Cohen-Solal(2), Dominique Chrétien(2), J. Poggi(2), Kenneth Ng(1), J. Bourguignon(1), C. Lasselin(1), Peter Freisinger(1), Paule Bénit(1), Pascale de Lonlay-Debeney(1), Valérie Cormier‐Daire(1)