Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy-Reference-Cited by-同舟云学术

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy

Author:

Lamari Foudil¹²,Mauhin Wladimir³,Koraichi Fairouz⁴,Khrouf Walid¹,Bordet Celine⁴,London Jonathan³,Lidove Olivier³^ORCID,Charron Philippe⁴⁵

Affiliation:

1. Laboratoire de Biochimie Métabolique APHP, Hôpitaux Universitaires Pitié‐Salpêtrière Paris France

2. GRC 2011‐Neurométabolisme Université Pierre et Marie‐Curie‐Sorbonne Paris France

3. Service de Médecine Interne, Centre de Référence des Maladies Lysosomales Groupe Hospitalier Diaconesses‐Croix St Simon Paris France

4. Centre de Référence pour les Maladies Cardiaques Héréditaires, Département de Génétique APHP, Hôpital Pitié‐Salpêtrière Paris France

5. INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition Sorbonne Université Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

Reference17 articles.

5. Nature and frequency of mutations in the alpha‐galactosidase A gene that cause Fabry disease;Eng C. M.;American Journal of Human Genetics,1993

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