#malmin

@bibliotecahuvh.bsky.social

2 months ago

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics Fabry disease (FD), also known as Anderson-Fabry disease, is a heterogeneous, multisystem lysosomal storage disorder with an X-linked inheritance patt…

Diagnosis, treatment, and follow-up of Fabry disease in pediatrics www.sciencedirect.com/science/arti... #hvhebron #malmin [Text complet]

@bibliotecahuvh.bsky.social

3 months ago

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond Click on the article title to read more.

HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #malmin [Text complet]

@bibliotecahuvh.bsky.social

3 months ago

Human, economic, and social impact of lysosomal storage diseases - Orphanet Journal of Rare Diseases Background Lysosomal storage disorders (LSDs) are a group of rare metabolic conditions caused by enzyme deficiencies, leading to the accumulation of macromolecules within lysosomes. These disorders si...

Human, economic, and social impact of lysosomal storage diseases link.springer.com/article/10.1... #hvhebron #malmin [Text complet]

@bibliotecahuvh.bsky.social

3 months ago

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey Long-term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a me....

Long-term effectiveness and safety outcomes in adults with #Fabry #disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #malmin [Text complet]

@bibliotecahuvh.bsky.social

5 months ago

Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review Sickle cell disease (SCD) has large phenotypic variability. Systematic metabolomic profiling may provide insights into phenotypes and treatment respon…

Metabolomics in sickle cell disease: Current knowledge and gaps – A scoping review www.sciencedirect.com/science/arti... #hvhebron #ohp #malmin [Text complet]

The 🫠 ᴘʀᴇᴛᴛʏ BBC Radio 3 🎶 #NowPlaying Bot

@bbc3musicbot.bsky.social

6 months ago

Springar etter Svein P. Eikeland - Tveitaslåtten - Når mitt øie trett av møie Malmin, Åshild Vetrhus · Med Åshild Vetrhus · Song · 2025

🇺🇦 #NowPlaying on BBC #Radio3's #LateJunction

Malmin:
🎵 Springar etter Svein P. Eikeland - Tveitaslåtten - Når mitt øie trett av møie

#BBCRadio3 #Malmin


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▶️ Track on #Spotify:

@bibliotecahuvh.bsky.social

7 months ago

Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review www.mdpi.com/2077-0383/14... #hvhebron #malmin [Text complet]

The 🫠 ᴘʀᴇᴛᴛʏ BBC 6Music 🎶 #NowPlaying Bot - Radio 6

@bbc6musicbot.bsky.social

7 months ago

Hullaspringar, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #StuartMaconiesFreakZone

Malmin:
🎵 Hullaspringar (feat. Åshild Vetrhus)

#6music #Malmin

▶️ 🪄 Automagic 🔊 show 📻 playlist on Spotify

▶️ Song on #Bandcamp:

@bibliotecahuvh.bsky.social

9 months ago

Current status of the immunogenicity of enzyme replacement therapy in fabry disease - Orphanet Journal of Rare Diseases In patients with Fabry disease (FD), treatment with enzyme replacement therapy (ERT), may trigger the formation of anti-drug antibodies (ADAs). The consequences of this immune reaction range from the ...

Current status of the immunogenicity of enzyme replacement therapy in fabry disease ojrd.biomedcentral.com/articles/10.... #hvhebron #malmin #medint [Text complet]

@bibliotecahuvh.bsky.social

11 months ago

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy Analyses of up to 20 years of data from the Fabry Outcome Survey (FOS) assessed the long-term effectiveness of agalsidase alfa enzyme replacement ther…

Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy www.sciencedirect.com/science/arti... #hvhebron #malmin [Text complet]

@bibliotecahuvh.bsky.social

11 months ago

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys - Orphanet Journal of Rare Diseases Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucoce...

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys ojrd.biomedcentral.com/articles/10.... #hvhebron #malmin [Text complet]

The 🫠 ᴘʀᴇᴛᴛʏ BBC 6Music 🎶 #NowPlaying Bot - Radio 6

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11 months ago

Man fandt jo dette Himmelsind, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #NewMusicFix

Malmin & Åshild Vetrhus:
🎵 Man fandt jo dette Himmelsind

#6music #Malmin #ÅshildVetrhus

▶️ 🪄 Automagic 🔊 show 📻 playlist on Spotify

▶️ Song on #Bandcamp:

The 🫠 ᴘʀᴇᴛᴛʏ BBC 6Music 🎶 #NowPlaying Bot - Radio 6

@bbc6musicbot.bsky.social

1 year ago

Vinjavalsen - Halling etter Olav Bråtveit, by Malmin from the album Med Åshild Vetrhus

🇺🇦 #NowPlaying on #BBC6Music's #StuartMaconiesFreakZone

Malmin:
🎵 Vinjavalsen

#6music #Malmin
#newRelease - 🆕 album

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