A5067902806- Pediatric Hepatobiliary Diseases and Treatments
- Virus-based gene therapy research
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- CRISPR and Genetic Engineering
- Drug Transport and Resistance Mechanisms
- Lysosomal Storage Disorders Research
- Liver Diseases and Immunity
- Gallbladder and Bile Duct Disorders
- Liver Disease Diagnosis and Treatment
- RNA Interference and Gene Delivery
- Neonatal Health and Biochemistry
- Viral Infections and Immunology Research
- Kawasaki Disease and Coronary Complications
- Metabolism and Genetic Disorders
- Growth Hormone and Insulin-like Growth Factors
- Trypanosoma species research and implications
- Pancreatitis Pathology and Treatment
- Family and Disability Support Research
- Cleft Lip and Palate Research
- Diet and metabolism studies
- Birth, Development, and Health
- Diet, Metabolism, and Disease
- Pregnancy and preeclampsia studies
- Liver physiology and pathology
Université Paris-Saclay
2022-2025
Bicêtre Hospital
2023-2025
Assistance Publique – Hôpitaux de Paris
2022-2025
Inserm
2022-2024
Genethon (France)
2022-2023
Hôpital Necker-Enfants Malades
2022
Université Paris Cité
2022
Columbia University
2013
OBJECTIVE Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder typical facial features and hepatobiliary, cardiac, vascular, skeletal, ocular manifestations. The occurrence craniosynostosis in ALGS rare can be chronic ICH, requiring craniofacial surgery to increase the volume. authors report series 6 patients discuss their neurosurgical management. METHODS...
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease caused by biallelic variations in ABCB4. Data reporting on the impact of genotype and response to ursodeoxycholic acid (UDCA) therapy long-term outcomes are scarce.We retrospectively describe cohort 38 patients with PFIC3 median age at last follow-up 19.5 years (range 3.8-53.8).Twenty presented symptoms before 1 year age. Thirty-one received resulting serum test improvement 20. Twenty-seven had cirrhosis 8.1...
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations the AGL gene encoding for glycogen debranching enzyme (GDE). No curative treatment exists GSDIII. The 4.6 kb GDE cDNA represents major technical challenge toward development single recombinant adeno-associated virus (rAAV)-derived vector therapy strategy. Using information on structure molecular modeling, we generated multiple truncated GDEs retaining...
Abstract Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8–16.5) for 51 MPS patients who underwent HSCT between 1986 and 2018 in France. 4 died from complications of one disease progression. Complete chimerism normal activity were...
Background Seronegative autoimmune hepatitis in children is a rare but potentially severe disease, sometimes requiring liver transplantation. This type of may be associated with various immunological and hematological disorders, ranging from isolated lymphopenia to aplastic anemia. Precise pathophysiological mechanisms are still unknown, the role viruses cannot excluded, either as directly pathogenic or triggers, responsible for an inappropriate immune stimulation. Having impression...
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic caused by mutations in the AGL gene encoding glycogen debranching enzyme (GDE). The deficiency of this enzyme, involved cytosolic degradation, leads to pathological accumulation liver, skeletal muscles and heart. Although manifests with hypoglycemia liver metabolism impairment, progressive myopathy major burden adult GSDIII patients, without any curative treatment currently available. Methods: Here, we combined...
Abstract Background Oral cholic acid therapy is an effective in children with primary bile synthesis deficiencies. Most reported patients this treatment have 3β-hydroxy-Δ 5 -C 27 -steroid oxidoreductase deficiency. The aim of the study was evaluation a cohort rarer Δ 4 -3-oxosteroid 5β-reductase (Δ -3-oxo-R) Methods Sixteen -3-oxo-R deficiency confirmed by AKR1D1 gene sequencing who received oral were retrospectively analyzed. Results First symptoms early life (median 2 months age), 14 and 3...
To the Editor: Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder mainly caused by mutations in JAG1 (1,2). Phenotypic expressivity variable and have been found patients with incomplete ALGS presenting <3 major features of (3,4). Thus, it also useful to look for a genetic cause such ALGS-like patients. A genome-wide association study performed identified significant locus upstream thrombospondin 2 gene (THBS2) (2). THBS2 regulates cell fate angiogenesis expressed bile...