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K. Mention · SciRah

Researcher profile · Semantic Scholar

K. Mention

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K. Mention — researcher profile on SciRah

h-index: 26
Works: 67
Citations: 1,691

Most-cited papers

Glycogen storage disease type IX: High variability in clinical phenotype.
N. Beauchamp, A. Dalton, U. Ramaswami, H. Niinikoski +8 more
2007Molecular Genetics and Metabolism122 citations
Semantic Scholar
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
G. Touati, V. Valayannopoulos, K. Mention, P. de Lonlay +7 more
2006Journal of Inherited Metabolic Disease107 citations
Semantic Scholar
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
V. Valayannopoulos, N. Verhoeven, K. Mention, G. Salomons +6 more
2006Jornal de Pediatria84 citations
Semantic Scholar
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
C. Staufner, B. Peters, M. Wagner, S. Alameer +47 more
2019Genetics in Medicine66 citations Open access
Semantic Scholar
Persistence of Gastrocutaneous Fistula after Removal of Gastrostomy Tubes in Children: Prevalence and Associated Factors
N. El-Rifai, L. Michaud, K. Mention, D. Guimber +3 more
2004Endoscopy65 citations
Semantic Scholar
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients
C. Gitiaux, E. Roze, K. Kinugawa, Constance Flamand‐Rouvière +14 more
2008Movement Disorders64 citations Open access
Semantic Scholar
Helicobacter pylori Infection Is Not Associated With Specific Symptoms in Nonulcer-Dyspeptic Children
N. Kalach, K. Mention, D. Guimber, L. Michaud +2 more
2005Pediatrics63 citations
Semantic Scholar
Home enteral nutrition in children: an 11-year experience with 416 patients.
W. Daveluy, D. Guimber, K. Mention, D. Lescut +3 more
2005Clinical Nutrition60 citations
Semantic Scholar
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation
R. Teissier, E. Nowak, M. Assoun, K. Mention +6 more
2012Journal of Inherited Metabolic Disease57 citations
Semantic Scholar
[Malnutrition screening in hospitalized children: influence of the hospital unit on its management].
O. Marteletti, D. Caldari, D. Guimber, K. Mention +2 more
2005Archives de pédiatrie53 citations
Semantic Scholar
Hypoglycaemia related to inherited metabolic diseases in adults
C. Douillard, K. Mention, D. Dobbelaere, J. Wemeau +2 more
2012Orphanet Journal of Rare Diseases51 citations Open access
Semantic Scholar
Development of liver disease despite mannose treatment in two patients with CDG-Ib.
K. Mention, F. Lacaille, V. Valayannopoulos, S. Romano +8 more
2008Molecular Genetics and Metabolism50 citations
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri +57 more
2019Journal of Inherited Metabolic Disease49 citations Open access
Semantic Scholar
Endocrine manifestations related to inherited metabolic diseases in adults
M. Vantyghem, D. Dobbelaere, K. Mention, J. Wemeau +2 more
2012Orphanet Journal of Rare Diseases49 citations Open access
Semantic Scholar
Renal function outcome in pediatric liver transplant recipients
K. Mention, A. Lahoche-Manucci, M. Bonnevalle, François-René Pruvot +3 more
2005Pediatric Transplantation47 citations
Semantic Scholar
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
V. Valayannopoulos, N. Boddaert, K. Mention, G. Touati +9 more
2009Molecular Genetics and Metabolism45 citations
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Martina Huemer, D. Diodato, D. Martinelli, G. Olivieri +58 more
2018Journal of Inherited Metabolic Disease40 citations Open access
Semantic Scholar
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
F. Molema, F. Gleich, P. Burgard, A. T. Ploeg +64 more
2019Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
M. Husson, M. Schiff, A. Fouilhoux, A. Cano +9 more
2016Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Y. Khaikin, S. Sidky, J. Abdenur, A. Anastasi +22 more
2018European journal of paediatric neurology33 citations Open access
Semantic Scholar
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
F. Molema, F. Gleich, P. Burgard, A. T. van der Ploeg +63 more
2019Molecular Genetics and Metabolism32 citations Open access
Semantic Scholar
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
L. Van Haute, E. O'Connor, Héctor Díaz-Maldonado, B. Munro +37 more
2023Nature Communications29 citations Open access
Semantic Scholar
Genetic landscape of pediatric acute liver failure of indeterminate origin
D. Lenz, L. D. Schlieben, Masaru Shimura, Alyssa Bianzano +91 more
2023Hepatology28 citations Open access
Semantic Scholar
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
E. Jeannesson-Thivisol, F. Feillet, C. Chéry, P. Perrin +24 more
2015Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
What’s new in metabolic and genetic hypoglycaemias: diagnosis and management
V. Valayannopoulos, S. Romano, K. Mention, A. Vassault +5 more
2008European Journal of Pediatrics27 citations
Semantic Scholar
Long term outcome of MPI‐CDG patients on D‐mannose therapy
M. Girard, C. Douillard, D. Debray, F. Lacaille +15 more
2020Journal of Inherited Metabolic Disease26 citations Open access
Semantic Scholar
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
M. Schiff, P. Broué, B. Chabrol, C. de Laet +6 more
2012Journal of Inherited Metabolic Disease24 citations
Semantic Scholar
Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study
T. Duburcq, Arthur Durand, A. Dessein, J. Vamecq +12 more
2017Critical Care22 citations Open access
Semantic Scholar
Congenital idiopathic intestinal pseudo‐obstruction and hydrocephalus with stenosis of the aqueduct of sylvius
L. Bott, O. Boute, K. Mention, M. Vinchon +2 more
2004American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)
K. Mention, L. Michaud, D. Dobbelaere, D. Guimber +2 more
2001Archives of Disease in Childhood: Fetal and Neonatal Edition20 citations Open access
Semantic Scholar
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
S. Paquay, A. Bourillon, S. Pichard, J. Benoist +14 more
2017Journal of Inherited Metabolic Disease19 citations Open access
Semantic Scholar
Gastropathy and Gastritis in Children With Portal Hypertension
N. El-Rifai, K. Mention, D. Guimber, L. Michaud +3 more
2007Journal of Pediatric Gastroenterology and Nutrition - JPGN19 citations Open access
Semantic Scholar
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
A. Oussalah, E. Jeannesson-Thivisol, C. Chéry, P. Perrin +26 more
2020EBioMedicine16 citations Open access
Semantic Scholar
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
M. Tardieu, C. Cudejko, A. Cano, C. Hoebeke +31 more
2023European Journal of Neurology15 citations Open access
Semantic Scholar
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
D. Roland, P. Jissendi‐Tchofo, G. Briand, J. Vamecq +5 more
2017Molecular Genetics and Metabolism15 citations
Semantic Scholar
Tolerance and efficacy of intravenous iron saccharate for iron deficiency anemia in children and adolescents receiving long-term parenteral nutrition.
L. Michaud, D. Guimber, K. Mention, S. Neuville +3 more
2002Clinical Nutrition15 citations
Semantic Scholar
Individual and family determinants for quality of life in parents of children with inborn errors of metabolism requiring a restricted diet: a multilevel analysis approach.
Abdoulaye Ouattara, N. Resseguier, A. Cano, P. de Lonlay +25 more
2022Jornal de Pediatria12 citations Open access
Semantic Scholar
Postauthorization safety study of betaine anhydrous
U. Mütze, F. Gleich, S. Garbade, C. Plisson +25 more
2022Journal of Inherited Metabolic Disease11 citations Open access
Semantic Scholar
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Abdoulaye Ouattara, N. Resseguier, A. Cano, P. de Lonlay +25 more
2021Jornal de Pediatria11 citations Open access
Semantic Scholar
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
P. Minet, C. Sarret, A. Miret, K. Mention +2 more
2020Acta Neurologica Belgica11 citations
Semantic Scholar
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
A. Cano, N. Resseguier, Abdoulaye Ouattara, P. de Lonlay +25 more
2020Jornal de Pediatria11 citations Open access
Semantic Scholar
[Neonatal epilepsy and inborn errors of metabolism].
N. Bahi-buisson, K. Mention, P. Léger, V. Valayanopoulos +6 more
2006Archives de pédiatrie10 citations
Semantic Scholar
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients
Caroline Tuchmann-Durand, C. Roda, P. Renard, G. Mortamet +23 more
2023Journal of Inherited Metabolic Disease9 citations Open access
Semantic Scholar
Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study
P. de Lonlay, R. Posset, U. Mütze, K. Mention +11 more
2021JIMD Reports9 citations Open access
Semantic Scholar
[The consulting physician for withdrawal of life-sustaining treatments in children].
R. Cremer, P. Fayoux, D. Guimber, S. Joriot +9 more
2012Archives de pédiatrie9 citations Open access
Semantic Scholar
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
P. Renard, L. Caccavelli, A. Legendre, Caroline Tuchmann-Durand +17 more
2023Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie8 citations Open access
Semantic Scholar
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature
M. Gibaud, M. Barth, J. Lefranc, K. Mention +12 more
2021Frontiers in Pediatrics8 citations Open access
Semantic Scholar
Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?
K. Mention, Marie Joncquel Chevalier Curt, A. Dessein, C. Douillard +2 more
2021Biochimie8 citations Open access
Semantic Scholar
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency
A. Dessein, E. Hebbar, J. Vamecq, E. Lebredonchel +10 more
2022Molecular Genetics and Metabolism Reports7 citations Open access
Semantic Scholar
First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study
Nicolas Germain, A. Dessein, Jean-Claude Vienne, D. Dobbelaere +6 more
2019International Journal of Medical Sciences7 citations Open access
Semantic Scholar

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