Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Performance of afternoon (16:00 h) serum cortisol for the diagnosis of Cushing's syndrome

Bone mineral density in French adults with early-treated phenylketonuria

Management of pregnancy in a patient with congenital hyperinsulinism treated with association of diazoxide/calcium channel blocker

Givosiran in acute intermittent porphyria: A personalized medicine approach

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient

Metreleptin treatment of non-HIV lipodystrophy syndromes

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells

Long term outcome of MPI-CDG patients on D-mannose therapy

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease

Low hormone levels during an attack of systemic capillary leak syndrome normalizing after treatment

Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults

Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey

Nitrous oxide abuse in the emergency practice, and Review of toxicity mechanisms and potential markers

Neurological manifestations in adults with phenylketonuria: new cases and review of the literature

Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review

Health economic impact of patients with phenylketonuria (PKU) in France - A nationwide study of health insurance claims data

Foetal exposure to mitotane/Op'DDD: Post-natal study of four children

Steroid hormones in systemic sclerosis: associations with disease characteristics and modifications during scleroderma renal crisis

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