Cohorte DEFI-ALPHA et projet hospitalier de recherche clinique POLYGEN DEFI-ALPHA. Étude des facteurs cliniques, biologiques et génétiques associés à l’apparition et à l’évolution de complications hépatiques chez les enfants présentant un déficit en alpha-1 antitrypsine

Archive ouverte

Joly, Philippe | Restier, L. | Bouchecareilh, M. | Lacan, P. | Cabet, F. | Chapuis-Cellier, C. | Francina, A. | Lachaux, A.

Edité par CCSD ; Elsevier Masson -

International audience

Consulter en ligne

Suggestions

Du même auteur

Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort

Archive ouverte | Ruiz, M. | CCSD

International audience. BACKGROUND & AIMS: To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. METHODS: Retrospec...

Assessment of liver fibrosis by transient elastography (Fibroscan((R))) in patients with A1AT deficiency

Archive ouverte | Chapuis-Cellier, C. | CCSD

International audience. BACKGROUND: Alpha-1-antitrypsin deficiency (A1ATD) is a common genetic condition which predisposes to emphysema and liver disorders. It is estimated that 10-15% of homozygous individuals for ...

Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].

Archive ouverte | Lacan, P. | CCSD

International audience. Two new beta-globin chain variants: Hb Tripoli: codon 26, GAG-->GCG [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou: codon 29, GGC-->AGC [beta29(B11)Gly-->Ser] are described on the first exon of the ...

Chargement des enrichissements...