Pascale de Lonlay

Université Paris Cité — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

65h-index16.3kcitations369works1.82yr avg
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Research Topics

Metabolism and Genetic Disorders(174), Mitochondrial Function and Pathology(81), Hyperglycemia and glycemic control in critically ill and hospitalized patients(46), Amino Acid Enzymes and Metabolism(41), Pancreatic function and diabetes(33)

Publications369 total

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Additional file 1 of Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Additional file 2 of Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Additional file 1 of Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Additional file 2 of Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
Figshare·2026Open Access
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?
Journal of Inherited Metabolic Disease·2025Open Access
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Orphanet Journal of Rare Diseases·2025· 1 citedOpen Access
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency
Journal of Inherited Metabolic Disease·2025· 1 citedOpen Access
Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study
Molecular Genetics and Metabolism·2025Open Access
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
Genome Medicine·2025· 7 citedOpen Access
Analyse des dépenses de santé et des parcours de soins des patients atteints de la maladie de Pompe recevant du Myozyme : une étude observationnelle basée sur les données du système national des données de santé (SNDS).
Journal of Epidemiology and Population Health·2025Open Access
Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders
Journal of Inherited Metabolic Disease·2024· 3 citedOpen Access
255P Relevance of muscle biopsies in the neonatal period: a 52-year retrospective study in the gene-sequencing era
Neuromuscular Disorders·2024
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases
Journal of Inherited Metabolic Disease·2024· 5 citedOpen Access
Quand un métal est utilisé pour traiter une maladie génétique rare
2024
CREAT_criteria: What have we learned regarding CTD patient epilepsy? A prospective study increatine transporter deficiency (SLC6A8) patients to determine the most relevant outcome measures
SPIRE - Sciences Po Institutional REpository·2024
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins
Frontiers in Endocrinology·2024· 1 citedOpen Access
Panorama étiologique et génétique de l’hyperammoniémie chez l’adulte : une étude rétrospective bi-centrique française
La Revue de Médecine Interne·2024
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning
Autophagy Reports·2024· 4 citedOpen Access
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Frequent Co-authors

Arnold Münnich(12), Vassili Valayannopoulos(11), Jean‐Marie Saudubray(10), Agnès Rötig(9), Dominique Chrétien(9), Guy Touati(9), Françis Brunelle(9), Claire Nihoul‐Feketé(8), Nathalie Boddaert(8), Daniel Rabier(7), Jacques Rahier(6), Nathalie Séta(6), Jean‐Baptiste Arnoux(6), Laurence Hubert(6), Isabelle Desguerre(5), Damien Bonnet(5), Jean‐Paul Bonnefont(5), B. Chabrol(5), Yves de Keyzer(5), Jean‐Jacques Robert(5)