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

Neurological and psychiatric issues in 187 adults with early-treated PKU: The ECOPHEN study

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare 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

Enhancing Differential Diagnosis Related to Oxidative Stress, Nitrous Oxide, and Nutrition by Rapid Plasma Homocysteine Measurement

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

Acid sphingomyelinase deficiency in France: a retrospective survival study

Lipomatoses

Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study

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

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

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

Erratum to the article: "Rare causes of hypoglycemia in adults" [Ann. Endocrinol. 81 (2-3) (2020) 110-117]

Plasma Methionine and Clinical Severity in Nitrous Oxide Consumption

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

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

Givosiran in acute intermittent porphyria: A personalized medicine approach

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

Cardiac Outcomes in Adults With Mitochondrial Diseases

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

A case of pink urine associated with abdominal pain crisis

[Biological markers and metabolic impact of chronic nitrous oxide consumption]

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

Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?

Mediation of Interleukin-23 and Tumor Necrosis Factor-Driven Reactive Arthritis by Chlamydia-Infected Macrophages in SKG Mice

The Case | A man with acute bilateral urolithiasis

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

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

Rare causes of hypoglycemia in adults

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

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

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

Very High Plasma Homocysteine without Malnutrition or Inherited Disorder

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

Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults

Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation

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