Mme Docteur CLAIRE DOUILLARD
✨ Profil synthétique
IA · 01/05/2026Mme Docteur Claire Douillard est une rhumatologue libérale à Herbeys avec une activité de recherche significative, comme en témoignent son h-index de 24 et ses 123 publications. Ses travaux de recherche couvrent divers domaines, notamment les troubles métaboliques et génétiques, la génomique des maladies rares et la pathologie mitochondriale. Ses publications sur PubMed touchent à des pathologies spécifiques comme la sclérodermie et à des sujets tels que les biomarqueurs et l'économie de la santé.
Expertises présumées
- Sclérodermie
- Biomarqueurs en rhumatologie
- Pédiatrie rhumatologique
- Génomique des maladies rares
- Pathologie mitochondriale
- Troubles métaboliques et génétiques
- Économie de la santé en rhumatologie
Synthèse automatique à partir des sources publiques (HAL, OpenAlex, theses.fr, ClinicalTrials.gov, FAI²R, ANS). Pas une évaluation clinique. Le médecin peut corriger via son compte.
Diplômes
🎓 DES & spécialité ordinale
- DES Rhumatologie
- Rhumatologie (SM)
🎓 Diplômes
- DE Docteur en médecine
Source : Annuaire Santé ANS (FHIR Practitioner.qualification) · Mises à jour quotidiennes.
Activité de recherche & publications
Source : bases de données publiques (OpenAlex, PubMed).
h-index
24
h articles cités ≥ h fois chacun. Un h de 24 = 24 publications avec 24+ citations.
Citations
1 767
Publications
123
i10-index
39
Thématiques principales
- Metabolism and Genetic Disorders ×35
- Folate and B Vitamins Research ×12
- Trauma, Hemostasis, Coagulopathy, Resuscitation ×12
- Genomics and Rare Diseases ×12
- Mitochondrial Function and Pathology ×10
Affiliations FR : Université de Lille · Centre Hospitalier Universitaire de Lille · Unité de recherche sur les maladies cardiovasculaires et métaboliques
Source : OpenAlex (CC0, OurResearch). Indicateurs académiques agrégés sur 250 M+ d'œuvres.
Bibliographie
Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study
2026ArticleMolecular Genetics and Metabolism
Performance of afternoon (16:00 h) serum cortisol for the diagnosis of Cushing's syndrome
2025ArticleClinical Chemistry and Laboratory Medicine
#1861 Kidney involvement in MELAS/MIDD syndrome: a multicentric description of 104 patients
2025Congrès62nd ERA Congress
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study
2025ArticleJournal of Neurology
Bone mineral density in French adults with early-treated phenylketonuria
2025ArticleMolecular Genetics and Metabolism
Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data
2024ArticleMolecular Genetics and Metabolism Reports
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases
2024ArticleMolecular Genetics and Metabolism
Acid sphingomyelinase deficiency in France: a retrospective survival study
2024ArticleOrphanet Journal of Rare Diseases
Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).
Localisation
Adresses géocodées via la Base Adresse Nationale (api-adresse.data.gouv.fr). Précision indicative.
Lieu de consultation
CABINET DU DR CLAIRE DOUILLARD
358 ROUTE D URIAGE, 38320 Herbeys
Libéral© OpenStreetMap
Tarifs & secteur de conventionnement
Prendre rendez-vous & contact
Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Top publications · les plus citées
- 1Neurological manifestations in adults with phenylketonuria: new cases and review of the literature
Journal of neurology · 2020
📚 37 citations🎯 RCR 3.36Top 14% NIH - 2Givosiran in acute intermittent porphyria: A personalized medicine approach
Molecular genetics and metabolism · 2022
📚 34 citations🎯 RCR 3.21Top 15% NIH - 3Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Journal of neurology · 2019
📚 33 citations🎯 RCR 1.89
Publications scientifiques (50) — classées par pathologie
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Transversal41
▼
Transversal41
▼- Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Journal of inherited metabolic disease · 2026 · Journal Article
Cano A, Chen X, Khemiri A, Brassier A, et al.
- Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Orphanet journal of rare diseases · 2026 · Journal Article
Douillard C, Poujois A, Belmatoug N, Lidove O, et al.
- Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study
Molecular genetics and metabolism · 2026 · Journal Article
Giret C, Charrière S, Feillet F, Fouilhoux A, et al.
- Performance of afternoon (16:00 h) serum cortisol for the diagnosis of Cushing's syndrome
Clinical chemistry and laboratory medicine · 2025 · Journal Article
Dupuis H, Merlen E, Elices-Diez J, Balayé P, et al.
- Bone mineral density in French adults with early-treated phenylketonuria
Molecular genetics and metabolism · 2025 · Journal Article
Dybal E, Maillot F, Feillet F, Fouilhoux A, et al.
📚 2 cit. - Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study
Journal of neurology · 2024 · Journal Article
Brachet M, Charrière S, Douillard C, Feillet F, et al.
📚 1 cit. - Enhancing Differential Diagnosis Related to Oxidative Stress, Nitrous Oxide, and Nutrition by Rapid Plasma Homocysteine Measurement
Journal of xenobiotics · 2024 · Journal Article
Grzych G, Zerimech F, Touze B, Descamps C, et al.
📚 2 cit. - Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases
Molecular genetics and metabolism · 2024 · Journal Article
Bouchereau J, Wicker C, Mention K, Marbach C, et al.
📚 3 cit.🎯 RCR 1.40 - Acid sphingomyelinase deficiency in France: a retrospective survival study
Orphanet journal of rare diseases · 2024 · Journal Article
Mauhin W, Guffon N, Vanier MT, Froissart R, et al.
📚 6 cit.🎯 RCR 1.86 - Lipomatoses
Annales d'endocrinologie · 2024 · Journal Article
Dupuis H, Lemaitre M, Jannin A, Douillard C, et al.
📚 9 cit.🎯 RCR 3.58 - Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available
European journal of neurology · 2024 · Journal Article
Rouyer A, Tard C, Dessein AF, Spinazzi M, et al.
📚 9 cit.🎯 RCR 1.93 - Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data
Molecular genetics and metabolism · 2023 · Observational Study
Douillard C, Arnoux JB, Bouée S, Jacob C, et al.
📚 7 cit.🎯 RCR 1.34🩺 Clinique - Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data
Molecular genetics and metabolism · 2023 · Observational Study
Charrière S, Maillot F, Bouée S, Douillard C, et al.
📚 20 cit.🎯 RCR 4.79🩺 Clinique - Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption
Toxics · 2022 · Journal Article
Gernez E, Deheul S, Tard C, Joncquel M, et al.
📚 11 cit.🎯 RCR 1.79🔬→🩺 Translationnel - Erratum to the article: "Rare causes of hypoglycemia in adults" [Ann. Endocrinol. 81 (2-3) (2020) 110-117]
Annales d'endocrinologie · 2022 · Published Erratum
Douillard C, Jannin A, Vantyghem MC
📚 1 cit. - Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Life (Basel, Switzerland) · 2022 · Journal Article
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, et al.
📚 11 cit.🎯 RCR 1.08 - Cardiac Outcomes in Adults With Mitochondrial Diseases
Journal of the American College of Cardiology · 2022 · Journal Article
Savvatis K, Vissing CR, Klouvi L, Florian A, et al.
📚 20 cit.🎯 RCR 1.78 - Management of pregnancy in a patient with congenital hyperinsulinism treated with association of diazoxide/calcium channel blocker
Acta diabetologica · 2022 · Journal Article
Lemaitre M, Douillard C, Froguel P, Bonnefond A, et al.
📚 1 cit. - A case of pink urine associated with abdominal pain crisis
Annales de biologie clinique · 2022 · Journal Article
Gernez E, Kim I, Douillard C, Dobbelaere D, et al.
📚 1 cit. - [Biological markers and metabolic impact of chronic nitrous oxide consumption]
Annales de biologie clinique · 2022 · Editorial
Grzych G, Deheul S, Davion JB, Lemonnier F, et al.
📚 3 cit. - A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency
Molecular genetics and metabolism reports · 2022 · Journal Article
Dessein AF, Hebbar E, Vamecq J, Lebredonchel E, et al.
📚 6 cit. - Givosiran in acute intermittent porphyria: A personalized medicine approach
Molecular genetics and metabolism · 2022 · Journal Article
Poli A, Schmitt C, Moulouel B, Mirmiran A, et al.
📚 34 cit.🎯 RCR 3.21🔬→🩺 Translationnel - Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease
Journal of clinical medicine · 2022 · Journal Article
Mauhin W, Tebani A, Amelin D, Abily-Donval L, et al.
📚 1 cit. - Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
Journal of clinical medicine · 2022 · Journal Article
Mauhin W, Borie R, Dalbies F, Douillard C, et al.
📚 11 cit.🎯 RCR 1.26🔬→🩺 Translationnel - Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient
JIMD reports · 2021 · Case Reports
Lebredonchel E, Duvet S, Douillard C, Foulquier F, et al.
📚 6 cit. - Metreleptin treatment of non-HIV lipodystrophy syndromes
Presse medicale (Paris, France : 1983) · 2021 · Journal Article
Chevalier B, Lemaitre M, Leguier L, Mapihan KL, et al.
📚 7 cit. - Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?
Biochimie · 2021 · Journal Article
Mention K, Joncquel Chevalier Curt M, Dessein AF, Douillard C, et al.
📚 8 cit. - Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Journal of inherited metabolic disease · 2021 · Journal Article
Toquet S, Spodenkiewicz M, Douillard C, Maillot F, et al.
📚 26 cit.🎯 RCR 3.00 - Mediation of Interleukin-23 and Tumor Necrosis Factor-Driven Reactive Arthritis by Chlamydia-Infected Macrophages in SKG Mice
Arthritis & rheumatology (Hoboken, N.J.) · 2021 · Journal Article
Romand X, Liu X, Rahman MA, Bhuyan ZA, et al.
📚 13 cit. - The Case | A man with acute bilateral urolithiasis
Kidney international · 2021 · Journal Article
Hamroun A, Lenain R, Maanaoui M, Provôt F, et al.
📚 1 cit. - Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Molecular genetics and metabolism · 2021 · Journal Article
Guffon N, Mochel F, Schiff M, De Lonlay P, et al.
📚 11 cit.🎯 RCR 1.00🔬→🩺 Translationnel - LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells
European journal of endocrinology · 2021 · Case Reports
Sollier C, Capel E, Aguilhon C, Smirnov V, et al.
📚 31 cit.🎯 RCR 2.37 - Very High Plasma Homocysteine without Malnutrition or Inherited Disorder
Clinical chemistry · 2020 · Case Reports
Grzych G, Douillard C, Lannoy J, Joncquel Chevalier Curt M
📚 5 cit. - Long term outcome of MPI-CDG patients on D-mannose therapy
Journal of inherited metabolic disease · 2020 · Journal Article
Girard M, Douillard C, Debray D, Lacaille F, et al.
📚 23 cit.🎯 RCR 1.36🔬→🩺 Translationnel - Rare causes of hypoglycemia in adults
Annales d'endocrinologie · 2020 · Journal Article
Douillard C, Jannin A, Vantyghem MC
📚 25 cit.🎯 RCR 2.15 - Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
PloS one · 2020 · Journal Article
Mauhin W, Benveniste O, Amelin D, Montagner C, et al.
📚 11 cit. - Low hormone levels during an attack of systemic capillary leak syndrome normalizing after treatment
Hormone molecular biology and clinical investigation · 2020 · Case Reports
Davion JB, Sanges S, Ghulam A, Lambert M, et al.
📚 1 cit. - Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia
JIMD reports · 2020 · Case Reports
Perry A, Douillard C, Jonca F, Glowacki F, et al.
📚 3 cit. - Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Journal of neurology · 2019 · Journal Article
Mandia D, Chaussenot A, Besson G, Lamari F, et al.
📚 33 cit.🎯 RCR 1.89🔬→🩺 Translationnel - Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Orphanet journal of rare diseases · 2018 · Journal Article
Mauhin W, Lidove O, Amelin D, Lamari F, et al.
📚 28 cit.🎯 RCR 1.46🔬→🩺 Translationnel - Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation
Presse medicale (Paris, France : 1983) · 2018 · Case Reports
Jannin A, Espiard S, Douillard C, Pasquier F, et al.
📚 5 cit.
Revue générale4
▼
Revue générale4
▼- Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review
Molecular genetics and metabolism · 2025 · Case Reports
Martzolff L, Raynor A, Lebredonchel E, Marescaux S, et al.
- The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Journal of inherited metabolic disease · 2024 · Journal Article
Stepien KM, Langendonk JG, Dao M, Gomes DC, et al.
📚 7 cit.🎯 RCR 3.01🔬→🩺 Translationnel - Nitrous oxide abuse in the emergency practice, and Review of toxicity mechanisms and potential markers
Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association · 2022 · Journal Article
Joncquel Chevalier-Curt M, Grzych G, Tard C, Lannoy J, et al.
📚 13 cit.🎯 RCR 2.19🔬→🩺 Translationnel - Neurological manifestations in adults with phenylketonuria: new cases and review of the literature
Journal of neurology · 2020 · Journal Article
Jaulent P, Charriere S, Feillet F, Douillard C, et al.
📚 37 cit.🎯 RCR 3.36🔬→🩺 Translationnel
Biomarqueurs / Auto-Ac1
▼
Biomarqueurs / Auto-Ac1
▼- Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study
Journal of neurology · 2023 · Journal Article
Grzych G, Deheul S, Gernez E, Davion JB, et al.
📚 24 cit.🎯 RCR 7.04
Case report / série1
▼
Case report / série1
▼- Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review
Molecular genetics and metabolism · 2025 · Case Reports
Martzolff L, Raynor A, Lebredonchel E, Marescaux S, et al.
Économie santé1
▼
Économie santé1
▼- Health economic impact of patients with phenylketonuria (PKU) in France - A nationwide study of health insurance claims data
Molecular genetics and metabolism reports · 2024 · Journal Article
Arnoux JB, Douillard C, Maillot F, Bouée S, et al.
📚 2 cit.
Pédiatrie1
▼
Pédiatrie1
▼- Foetal exposure to mitotane/Op'DDD: Post-natal study of four children
Clinical endocrinology · 2018 · Journal Article
Magkou D, Do Cao C, Bouvattier C, Douillard C, et al.
📚 4 cit.
Sclérodermie1
▼
Sclérodermie1
▼- Steroid hormones in systemic sclerosis: associations with disease characteristics and modifications during scleroderma renal crisis
Rheumatology (Oxford, England) · 2025 · Journal Article
Collet A, Sanges S, Ghulam A, Genin M, et al.
📚 1 cit.
Vraie vie / RWE1
▼
Vraie vie / RWE1
▼- 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
JIMD reports · 2021 · Journal Article
de Lonlay P, Posset R, Mütze U, Mention K, et al.
📚 9 cit.🔬→🩺 Translationnel
Datasets & protocoles partagés
Source : DataCite — DOIs pour datasets, logiciels, protocoles, registres patient. Hors articles (déjà couverts).
