Hospital Pharmacist. I am still trying to figure out many things, including my views, so take them with a pinch of salt or two; three probably not good for you
Joined January 2015
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Antonio Ochoa retweeted
🧬 ¡Nueva edición del Máster en Enfermedades Metabólicas Hereditarias de la @UniversidadeUSC!
🔬 Diagnóstico y genómica
👶 Cribado neonatal
🧑 Enfermedad metabólica del adulto
🧬 Nuevas terapias y terapia génica
📅 Preinscripción desde el 1 de octubre
🎓 60 ECTS | VI edición | 2027
🔗 masteremh.es/master.html
#EnfermedadesRaras
Antonio Ochoa retweeted
JUST ANNOUNCED: Oliver Stevens Scholarship. To support Patient Advocates, select scholarships are available to attend the WORLDSymposium 2027. Open to lysosomal disease Patient Advocates. Funded by an independent grant from @BioMarin. worldsymposia.org/patient-ad…
Antonio Ochoa retweeted
Estabilidad de los medicamentos termolábiles a temperatura ambiente. #RevistaFarmaciaHospitalaria revistafarmaciahospitalaria.…
Antonio Ochoa retweeted
Hoy se ha dado un paso más para que la especialización sanitaria en Genética sea una realidad, con la aprobación en el Congreso de la toma en consideración de la Proposición de Ley sobre la profesión de biólogo sanitario.
Antonio Ochoa retweeted
docs.google.com/forms/d/e/1F…
Buenos días y feliz Jueves. Formación gratuita y libre impartida por el hospital Clinic de Barcelona
#quilomicronemiafamiliar
#quilomicronemiaautoinmune
#hipertrigliceridemiasevera
@hospitalclinic
Antonio Ochoa retweeted
Las EMH cambian. La formación también debe hacerlo.
El VI Máster Propio en Enfermedades Metabólicas Hereditarias 2027 incorpora nuevos contenidos y un reto inevitable: integrar la inteligencia artificial en el diagnóstico.
#EMH #Metabolismo #IA
masteremh.es/master.html
🤖 Made with AI
Antonio Ochoa retweeted
#SSIEM2026 | Post 7 🧬 Adult IMD
Four studies, four reminders that IMDs do not stop at 18:
🫀 GSD IIIa → frequent cardiac involvement
💪 LC-FAOD → lifelong multisystem burden
🚨 UCD → hyperammonaemia remains a life-threatening emergency
🧠 PKU → neurocognition matters across adulthood
➡️ Adult IMD care means lifelong, multidisciplinary & proactive follow-up.
#InheritedMetabolicDiseases #RareDiseases #AdultIMD
Antonio Ochoa retweeted
📢 Hoy, 9 de septiembre | 16:00 h
🧬 Videoconferencia en directo sobre cribado neonatal en la enfermedad de #Pompe, con el Dr. Cristóbal Colón Mejeras, de @santiagosergas @idis_research
Una oportunidad para profundizar en el valor del diagnóstico precoz en esta enfermedad metabólica rara.
#CribadoNeonatal #EnfermedadesRaras
🔗 us02web.zoom.us/meeting/regi…
Antonio Ochoa retweeted
What is a rare disease?
A rare disease is a condition experienced by fewer than 1 in 2,000 people. Yet together, more than 300 million people worldwide are living with a rare disease.
Rare diseases are rare. People living with them are not.💙
#RareDiseaseDay
ALT Two children playing barefoot in shallow ocean water under a sky with text asking 'What is a rare disease?' and a bright yellow sun illustration.
Antonio Ochoa retweeted
El día del diagnóstico de #GA1 empiezan muchas preguntas
¿Qué tengo que hacer?
¿Y si se pone malo?
¿Lo haré bien?
Aprendemos muchísimo por el camino Ese conocimiento puede ayudar a otras familias. Ayudanos a mejorar nuestra atención
forms.gle/NFveARYcmjHTpmqV9
Antonio Ochoa retweeted
Cuando un niño con GA1 enferma, las familias sabemos que hay que actuar.
Pero llegar a urgencias puede generar muchas dudas:
¿Conocerán la enfermedad?
¿Tendrán el protocolo?
¿Sabrán qué necesita nuestro hijo?
#GA1 #AciduriaGlutáricaTipo1 #Urgencias #EnfermedadesRaras
Antonio Ochoa retweeted
🕵️ A 2-year-old with acute episodes of dystonia. Symmetrical basal ganglia abnormalities on MRI.
What would you investigate next?
Dr Luisa Averdunk works through the latest Metabolic Mystery.
Can you solve the case before the reveal?
podcasts.apple.com/gb/podcas… #neurotwitter
🤖 Made with AI
Antonio Ochoa retweeted
Need a crash course in an inherited metabolic disease?
Silvia & Rodrigo’s IMD Research Round-Up series covers:
CDG, MMA, redox metabolism, GSD, newborn screening, lysosomal disease, metabolomics and mitochondrial disease.
#RareDisease #IMD #MedEd
m.soundcloud.com/user-109006…
🤖 Made with AI
Antonio Ochoa retweeted
Rachel Carling delivers the last talk of #BIMDG2026 explaining how the addition of one more disorder to newborn screening (Tyrosinemia Type 1) led to fundamental changes in how all newborn screening labs work
Antonio Ochoa retweeted
The UK currently screens for 10 disorders on the newborn blood spot, behind many other European nations.
The Equipoise project is looking at whether this should change. #BIMDG2026
nationalscreening.blog.gov.u…
Antonio Ochoa retweeted
Finally, the winner of the prize for the best Flash Presentation was Dr Robert Barski, who presented on Screening for MCADD - False Positive or False Negative? I #BIMDG2026
Antonio Ochoa retweeted
The winner of the best oral presentation was Dr Cameron Arbuckle who presented on the Management and Outcomes of Pregnancy in Isovaleric Academia #BIMDG2026
Antonio Ochoa retweeted
The meeting closes with the Prizes. The winner of the Trainee Presentation Prize was Dr Sophie Manoy who presented a series on sudden death in children with undiagnosed IMD. #BIMDG2026
Antonio Ochoa retweeted
There’s marked variability in newborn screening availability worldwide. Prof Bonham demonstrates how only 30% of babies have access to newborn screening.
Treatment for congenital hypothyroidism (for example) is cheap and simple
#bimdg2026
