The Journal of Inherited Metabolic Disease And yesterday, another medication was approved as well! Great progress in the field of #NPC and #lysosomalstoragedisorders

On the 20th September 2024 the #FDA approved Arimoclomol for use in Niemann Pick C patients aged 2 years and above. We've a podcast on the topic Listen here 👉 podcasts.apple.com/gb/podcast/jim… #niemannpickc #LysosomalStorageDisorders #npc #raredisease #newtreatments #orphandrugs

Gangliosidosis GM2 Type 2 is a lysosomal storage disorder caused by a deficiency of the enzyme hexosaminidase A. This deficiency leads to the accumulation of toxic substances in the brain and spinal cord. 🧬 #LysosomalStorageDisorders

📢 NOTICIA DE ÚLTIMO MOMENTO! 👏 👏 Celebración por esta buena noticia!! #somosala #fabry #LysosomalStorageDisorders #hospital #diagnostico #fabrydisease

Understanding Gaucher Disease 📚 It's a spectrum of diseases, with infantile Gaucher being the most severe form, appearing in the first year of life. It's characterized by rapid neurological deterioration and organ damage. #LysosomalStorageDisorders

Los invitamos acompañarnos en modalidad virtual : 🔗Inscripciones AQUÍ 👩🏻‍💻 us06web.zoom.us/meeting/regist… 🗓️ Fecha: Jueves 11 Julio ⏰ Hora : 9 AM – 5 PM - Hora 🇵🇪 ¡Tú participación hace la diferencia ! #LysosomalStorageDisorders

Reunirá a expertos y representantes de la sociedad civil #LysosomalStorageDisorders 🔗Inscripciones virtuales AQUÍ 👩🏻‍💻: us06web.zoom.us/meeting/regist… Revisa el programa en el siguiente link: 🌐 linko.page/lisosomales ¡Tú participación hace la diferencia 🤝!

¡ Únete a esta importante iniciativa ! 🌐linko.page/lisosomales 👩🏻‍💻Modalidad Virtual APPEL - Enfermedades Lisosomales Perú : 👇Canal YouTube: youtube.com/channel/UCeMs4…… 👇Facebook Live: facebook.com/profile.php?id…… 🔗Enlace zoom se compartirá pronto ¡No te lo pierdas! #LysosomalStorageDisorders

From deep inside the #FRIGE skunkworks, we present to you indigenously developed, affordable and high throughput #genetic assay for diagnosis of 29 common #lysosomalstoragedisorders. Proudly designed, engineered, validated and deployed in #India!

Delighted to see our novel #smMIP based #NGS assay for rapid, affordable, high throughput and automatable diagnosis of 29 common #LysosomalStorageDisorders in #India being captured by The Times Of India today.

In the meantime, our #LabBabies 👩🏻‍🔬Matilde Almeida e 👩‍🔬Catarina Sandiares are attending the ibimedsymposium and showcasing their latest results on two challenging #LysosomalStorageDisorders: #Sanfilippo and #NiemannPickC.

Observance of International Rare Disease Day 2024 in collaboration with #AIIMS Bhopal. #rarediseases #awareness #health #rarediseaseday #lsdss #lysosomalstoragedisorders #LSDs #awareness #patientadvocacy

Happy Monday! New publication in the all #openaccess #JIMDReports looking at a rapid test for lysosomal enzyme activity in dried blood spots. doi.org/10.1002/jmd2.1… #LSDs #lysosomalstoragedisorders

Breakthrough in lysosomal storage disorder treatment unveiled noah-news.com/gb/en/science/… #medicalresearch #lysosomalstoragedisorders #JCRPharmaceuticals

Team GGC and friends enjoyed a very productive 2024 #WORLDSymposia meeting in San Diego sharing information and hope for #lysosomalstoragedisorders #genetics

Greetings from the WORLDSymposia 2024 🌎 in San Diego! MetabERN colleagues participating in the international research conference dedicated to #LysosomalStorageDisorders.

Si estás interesado en postularte para hacer una teis doctoral en biofísica #lipidosis #LysosomalStorageDisorders #AFM ...ponte en contacto #PhD #Barcelona #IBEC #fellowships #laCaixaFoundation ibecbarcelona.eu/careers-at-ibe… #FPU universidades.gob.es/ayudas-para-la…